This study measured the body mass index (BMI), and assessed attitudes and knowledge about obesity, of 197 male and 217 female patients aged 20-59 years attending the primary care clinic of the university hospital in Kelantan, Malaysia. There was no significant difference between the mean BMI of males (23.7) and females (24.2). In the overweight group (BMI 25-29.9) were 60 men (30%) and 66 women (30%). In the obese group (BMI 30 and above) were 12 men (6%) and 22 women (10%). Both diabetes mellitus and hypertension were associated with significantly higher BMI's. Knowledge about obesity was lacking. Sixty-three (15%) failed to recognize that obesity is bad for health. When asked the causes of obesity, 88 (21%) failed to mention either diet or lack of exercise. "Being happy" was suggested as a cause by 32 (8%). When asked if certain foods would cause obesity if eaten in excess, 45 (11%) said "No" for fatty foods, and 164 (40%) said "No" for sweet foods. Concerning appearance, 30 (15%) men regarded an obese man as normal or even handsome, while 49 (23%) women regarded an obese woman as normal or beautiful. Obesity is common among our adult patients, and is associated with some of their common health problems. However, a substantial minority do not regard obesity as unhealthy, do not relate it to diet or lack of exercise, do not recognize important groups of fattening foods, and do not regard obesity as unattractive.
Typhoid fever remains a common problem in Malaysia, but for its diagnosis both blood culture and the Widal test have drawbacks. A dot enzyme immunoassay (EIA) has been developed which detects IgM and IgG antibodies to a specific 50 kDa outer membrane protein on Salmonella typhi. This study was performed among outpatients attending the university hospital in Kelantan, a state on the east coast of Peninsular Malaysia where typhoid is endemic. The dot EIA was done on 149 outpatients of all ages in whom typhoid was suspected. Of these, 60 were not analysable due to insufficient data. The other 89 were retrospectively classed as typhoid (total = 21), or not typhoid (total = 68). The criteria for diagnosis of typhoid was either, blood culture was positive, or with blood culture negative, temperature was at least 38 degrees C and Widal O and/or H titer greater than or equal to 1/160. We then compared the diagnosis with the EIA result. For the result where either IgM or IgG was positive, sensitivity was 90%, specificity 91% and negative predictive value 97%. For IgM positive, specificity was 100%. But the specificity of IgG positive alone was reduced by six false positives, which were probably due to persistence of IgG after acute infection. Other cases were found where IgG positive alone appeared in the first week of typhoid fever, probably due to rapid response in a second or subsequent infection. We also found that IgM-producing patients were significantly younger than those showing IgG alone positive.
Study site: Community Medicine clinic, Accident & emergency department, Hospital Universiti Sains Malaysia (HUSM), Kelantan, Malaysia
The goal of this study was to validate the commercial feasibility of a novel casing formed from chitosan containing cinnamaldehyde (2.2%, w/v), glycerol (50%, w/w) and Tween 80 (0.2% w/w) under traditional sausage manufacturing conditions. Meat batter was stuffed into both chitosan and collagen (control) casings and cooked in a water bath. Before and after cooking, both casings were compared for mechanical, barrier, and other properties. Compared to collagen, the chitosan casing was a better (P≤0.05) barrier to water, oxygen, liquid smoke, and UV light. In mechanical and other properties, the chitosan casing had higher (P≤0.05) tensile strength, lower (P≤0.05) elongation at break and tensile energy to break, and better (P≤0.05) transparency whereas a similar (P>0.05) water solubility to the collagen casing. Overall, the chitosan casing was less affected by sausage manufacturing conditions than the collagen casing, indicating that chitosan casing has potential as an alternative to the current collagen casing in the manufacture of sausages.
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included developmental delay/intellectual disability, behavioral abnormalities, hypotonia, and congenital anomalies. Overlapping and recurrent facial features were identified in all subjects, including thickening and medial broadening of eyebrows, variations in the shape of the face, external eye abnormalities, smooth and/or long philtrum, and ear abnormalities. Hyperparathyroidism was found in four families with missense variants, and enrichment of different tumor types was observed. In molecular studies, DNA-binding domain variants elicited differential expression of a small set of target genes relative to wild-type ZFX in cultured cells, suggesting a gain or loss of transcriptional activity. Additionally, a zebrafish model of ZFX loss displayed an altered behavioral phenotype, providing additional evidence for the functional significance of ZFX. Our clinical and experimental data support that variants in ZFX are associated with an X-linked intellectual disability syndrome characterized by a recurrent facial gestalt, neurocognitive and behavioral abnormalities, and an increased risk for congenital anomalies and hyperparathyroidism.
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.