Spontaneous gall bladder perforation: a rare entity in infants.

Spontaneous gall bladder perforation in infants is rare. We report a 3-month-old male infant who presented with progressive abdominal distension, low-grade fever, bilateral hydrocele and acholic stools. Ultrasonography showed free fluid in the peritoneal cavity, which was bile-stained on paracentesis. Surgical exploration revealed sterile biliary peritonitis and a gangrenous gall bladder. Partial cholecystectomy with external biliary drainage resulted in satisfactory recovery.     

Murine Brca1: sequence and significance for human missense mutations

We have cloned and sequenced a mouse homologue of the humanbreast and ovarian cancer susceptibility gene, BRCA1. The predictedmouse Brca1 protein is composed of 1812 amino acids. The murineprotein is 60% identical and 72% similar to the human BRCA1protein. Two regions of high homology have been identified betweenthe two proteins. First is the Cys3—His—Cys4 typezinc-finger domain that is identical between the two proteins.The second region is defined by 115 amino acids near the carboxyend of the Brca 1 protein that is 83% identical to human BRCA1sequence. Seven of eight amino acids involved in human missensemutations that are associated with the disease were found tobe conserved between the two species. In contrast, most of theamino acids that are involved in polymorphic variations werenot conserved. We therefore propose that the interspecies conservationof predicted amino acid sequences can be used as an additionalcriterion to determine the significance of human missense mutations.     

The effect of various media and probe angles on the power output of the Cyclo G6 Glaucoma Laser System

Lasers in Medical Science - To evaluate the effect of various media and Iridex MicroPulse P3 (MP3) probe angles on the power output from the Cyclo G6 Glaucoma Laser (G6) System. A laser power meter...     

Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice

Inactivating mutations in human ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) may result in early-onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the rachitic phenotype, but elevating plasma phosphorus concentrations in ARHR2 patients may increase the risk of ectopic calcification without increasing bone mass. To assess the risks and efficacy of conventional ARHR2 therapy, we performed comprehensive evaluations of ARHR2 patients at two academic medical centers and compared their skeletal and renal phenotypes with ENPP1-deficient Enpp1^asj/asj mice on an acceleration diet containing high phosphate treated with recombinant murine Enpp1-Fc. ARHR2 patients treated with conventional therapy demonstrated improvements in rickets, but all adults and one adolescent analyzed continued to exhibit low bone mineral density (BMD). In addition, conventional therapy was associated with the development of medullary nephrocalcinosis in half of the treated patients. Similar to Enpp1^asj/asj mice on normal chow and to patients with mono- and biallelic ENPP1 mutations, 5-week-old Enpp1^asj/asj mice on the high-phosphate diet exhibited lower trabecular bone mass, reduced cortical bone mass, and greater bone fragility. Treating the Enpp1^asj/asj mice with recombinant Enpp1-Fc protein between weeks 2 and 5 normalized trabecular bone mass, normalized or improved bone biomechanical properties, and prevented the development of nephrocalcinosis and renal failure. The data suggest that conventional ARHR2 therapy does not address low BMD inherent in ENPP1 deficiency, and that ENPP1 enzyme replacement may be effective for correcting low bone mass in ARHR2 patients without increasing the risk of nephrocalcinosis. © 2021 American Society for Bone and Mineral Research (ASBMR).