Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.

Chemical composition, quality and histochemical characteristics of individual dromedary camel (Camelus dromedarius) muscles.

This study characterized the chemical composition, quality and histological traits of six muscles from 10 dromedary carcasses. There were significant differences in moisture, fat, protein, mineral, saturated and unsaturated fatty acid contents between muscles. The longissimus thoracis (LT) had the highest cooking loss (33.5%) and triceps brachii (TB) the lowest (29.2%). The shear force value of semitendinosus (ST), semimembranosus (SM) and biceps femoris (BF) were significantly higher than infraspinatus (IS), TB and LT. The LT had significantly higher values for L*, a*, b* than ST. The SM had the lowest MFI (65.3), while IS had the highest value (75.8). The ST significantly had the highest and lowest proportions of Type I and Type IIA muscle fibers, respectively than other muscles. This study indicated that composition, quality, and histochemical parameters varied among camel muscles and the knowledge of this variation allows for better marketing and processing of camel meat.

Mercury as a cause of fulminant hepatic failure in a child: case report and literature review.

Fulminant hepatic failure (FHF) in children is devastating unless urgent liver transplantation is undergone. Intoxication or drug-related FHF is a well-known group of causes leading to FHF. Mercury intoxication is described in the literature to cause hepatitis but not described to cause DRESS (drug reaction with eosinophilia and systemic symptoms) syndrome and FHF in the same patient. We describe a child with mercury intoxication and FHF with clinical features fulfilling DRESS syndrome criteria. To our best knowledge, this is the first case report of fatal acute liver failure secondary to mercury intoxication in the English literature. Mercury intoxication should receive a worldwide attention to its consequences in order to minimize the morbidities and mortalities that arise from its intoxication.

Effects of electrical stimulation on histochemical muscle fiber staining, quality, and composition of camel and cattle Longissimus thoracis muscles.

The effects of electrical stimulation on muscle fiber type, meat quality, and composition of Longissimus thoracis muscles from one-humped camels and Dofari Omani cattle of a comparable age range were investigated. A low-voltage electrical stimulation with 90 V, 14 Hz (pulse of 7.5-millisecond duration every 70 milliseconds) 20 min postmortem was applied. Samples from the left muscle were collected from 20 (2 to 3 y) camels and 24 cattle (1 to 3 y). For chemical composition, muscle samples were dried in a freeze dryer, and then ground to determine moisture, protein, fat, and ash. Macro- and micro-minerals were determined using an Inductively Coupled Plasma Emission Spectrometer. Quality characteristics of the meat were evaluated using shear force value, pH, sarcomere, myofibrillar fragmentation index, expressed juice, cooking loss percent, and CIE L*, a*, b* color values. Electrical stimulation resulted in a significantly (P < 0.05) more rapid pH fall in the muscle during the first 24 h after slaughter in both species. Muscles from electrically stimulated carcasses had significantly (P < 0.05) lower ultimate pH, longer sarcomere, and lower shear force values than those from nonstimulated carcasses. Lightness (L*), myofibrillar fragmentation, and expressed juice were significantly (P < 0.05) higher for stimulated than for nonstimulated muscles. Muscles of camels had significantly (P < 0.05) higher expressed juice, cooking loss percent, redness color (a*), and lower fat, Mg, K, and P than those from cattle. Electrical stimulation improved quality characteristics of meat from both species. This indicates that meat quality of local camel and cattle can be improved by electrical stimulation and consequently improves their acceptability to consumers and better marketability.