The mouse chromosome 7 distal imprinting domain maps to G-bands F4/F5

RATIONALE AND OBJECTIVES: The authors designed, assembled, tested, and clinically evaluated a high-quality, fast, and relatively inexpensive telemammography system. METHODS: The authors designed a telemammography system that uses a high-resolution film digitizer and high data compression (> or = 40:1) to send images over regular telephone lines to a high-resolution laser printer that produces images with the look and feel of the original image and can operate in a hub and spokes mode. The authors then evaluated the system's performance. In a preliminary clinical study, interpretations of the laser-printed system's output of 119 cases were compared with the original interpretations, followed by a review of any clinically significant differences. RESULTS: With the exception of the laser printer, which is a modified off-the-shelf product, all hardware components of the system are commercially available products. The system digitizes (50 microns pixel size), compresses, transmits, receives, decompresses, and prints a 30 MB mammography file in less than 4 minutes. In the clinical study, there were 13 differences (in 13 cases) in the level of concern or recommendations. Seven were found to be clinically insignificant by a third-party review. The remaining six were reviewed by the original interpreter, and three were determined to be significant enough for further action. All were found to result from intra-reader variability rather than differences in visualization of possible abnormalities. CONCLUSIONS: Almost real-time, high-quality telemammography without geographic boundaries is possible with the use of high-level data compression. Telemammography with laser-printed film as the display may make it possible to offer mammographic services in remote locations while using commercially available technology.     

The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11

Cleft lip with or without cleft palate, CL(P), a common human birth defect, has a genetically complex etiology. An animal model with a similarly complex genetic basis is established in the A/WySn mouse strain, in which 20% of newborns have CL(P). Using a newly created congenic strain, AEJ.A, and SSLP markers, we have mapped a major CL(P)-causing gene derived from the A/WySn strain. This locus, here named clf1 (cleft lip) maps to Chromosome (Chr) 11 to a region having linkage homology with human 17q21-24, supporting reports of association of human CL(P) with the retinoic acid receptor alpha (RARA) locus.     

The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34

The autosomal recessive mouse mutation sarcosinemia (sar), which was discovered segregating in the progeny of a male whose premeiotic germ cells had been treated with the mutagen ethylnitrosourea, is characterized by a deficiency in sarcosine dehydrogenase activity. Using an intersubspecific cross, we mapped the sar locus to mouse chromosome 2, approximately 15-18 cM from the centromere. The genetic localization of this locus in the mouse allows the identification of a candidate region in human (9q33-q34) where the homologous disease should map.     

Erythroid Krüppel-like transcription factor (Eklf) maps to a region of mouse chromosome 8 syntenic with human chromosome 19

The effects of fatty acids, including oleate, on the interaction between furosemide and valproic acid in sera at respective serum therapeutic concentration levels were investigated using an ultrafiltration technique. The free fraction of furosemide was significantly increased in the presence of valproic acid. Mutual displacement experiments indicated that furosemide and valproic acid share a common high affinity binding site on human serum albumin (HSA). The serum free fraction of furosemide was increased by the presence of six or more fatty acid molecules per HSA molecule. This fatty acid-induced increase in the unbound fraction of furosemide was further increased by the binding of valproic acid. However, the inhibition of furosemide binding to serum for a fatty acid-valproic acid-furosemide system is nearly the same as the additive effect of fatty acid and valproic acid on the furosemide to serum. Thus, the mechanism for the displacement of HSA-bound furosemide by valproic acid was concluded to be different from that for fatty acid-catalyzed displacement.     

The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion

HYPOTHESIS: Does occupational exposure to solvents in combination with alcohol intake give rise to acquired color vision defects? METHOD: A total of 138 individuals exposed to solvents (toluene, xylene, trichloroethylene, tetrachloroethylene) were examined using Lanthony's D-15 test and compared with 100 nonexposed controls. The extent of color vision loss was quantitatively assessed based on Bowman's color confusion index (CCI). A cumulative exposure index was calculated from the hours of exposure per day and the years of exposure. In 30 persons who were exposed to trichloroethylene and tetrachloroethylene, urinary trichloroacetic acid was assessed as a parameter of exposure. Alcohol intake was calculated as based on interviews of patients in grams of ethyl alcohol per week. RESULTS: Individuals who consumed more than 250 g alcohol/week and were simultaneously exposed to solvents showed a significantly elevated CCI (P = 0.0044). No significant correlation emerged between trichloroacetic acid excretion in the urine or the cumulative exposure index and the CCI. CONCLUSION: The combination of alcohol intake and occupational exposure to solvents discloses the risk of acquired subclinical color vision defects.     

The mouse homolog of the human Miller-Dieker chromosomal region (MDCR) maps to mouse chromosome 11 in close proximity to Mov9 and D11Nds1

Tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), and IL-1 have been shown to stimulate the synthesis of acute-phase proteins; however, few studies have examined the effect of these cytokines on gluconeogenesis. We investigated the effects of these cytokines on gluconeogenesis in primary cultures of rat hepatocytes. Incubation of hepatocytes for 24 hours with TNF-alpha or IL-1 alpha did not affect gluconeogenesis. Hepatocytes incubated with 100 pmol/L and 1 nmol/L IL-6 had a dose-dependent increase (P < .05) in gluconeogenesis (2.6 +/- 0.1 and 3.2 +/- 0.1 pmol/10(6) cells/min, respectively) as compared with controls (2.0 +/- 0.1).     

A rat mutation producing demyelination (dmy) maps to chromosome 17

A recessive mutation exhibiting severe myelin breakdown, mainly at the level of the lumbar segments of the spinal cord and without any associated inflammation, was discovered in a partially inbred rat colony. Analysis of the segregation patterns of a set of polymorphic microsatellite markers in two inter-strain crosses allowed the mapping of this autosomal recessive mutation to rat Chromosome (Chr) 17, very close to the prolactin (Prl) locus, in a region homologous to human Chr 6p21.2-22.3 and mouse Chr 13. The pathology of the demyelination process and the chromosomal localization indicate that this mutation has no known equivalent in either mouse or human.     

The protein kinase N (PKN) gene PRKCL1/Prkcl1 maps to human chromosome 19p12-p13.1 and mouse chromosome 8 with close linkage to the myodystrophy (myd) mutation

OBJECTIVE: This study was performed to evaluate the frequency of postdeglutitive aspiration in lateral hypopharyngeal pouches and to correlate postdeglutitive aspiration to pouch size and dynamics. MATERIALS AND METHODS: Two radiologists retrospectively analyzed 325 videofluorography examinations of patients swallowing. The 325 patients were 22-81 years old, 173 men and 152 women. Patients who had undergone surgery of the hypopharynx were excluded from the study. All pouches found on videofluorography were classified into grade I, II, or III. Because iodinated contrast agent had been used initially, patients who had no or minimal aspiration underwent a second imaging examination using high-density barium. RESULTS: Of the 325 patients, 118 had lateral hypopharyngeal pouches: 77 bilateral and 41 unilateral. Postdeglutitive aspiration was diagnosed in 14 (56%) of the 25 grade III pouches and in two (3%) ot the 58 grade II pouches. Aspiration was not seen in any of the 112 grade I pouches. CONCLUSION: The prevalence of postdeglutitive aspiration is high in patients who have grade III pouches. To date, no appropriate conservative treatment has been described; however, in severe cases surgery is warranted.     

Pten, a candidate tumor suppressor gene, maps to mouse chromosome 19

One hundred and five sequential transjugular core liver biopsies (TJLBx) were performed in 101 patients with coagulopathy and/or ascites using the 19-gauge Quick-Core Biopsy (QCB) needle. Two-hundred and seventy-three cores were obtained in 295 passes (92. 5%). One-hundred and two of the 105 procedures (97.1%) led to a histopathologic diagnosis. One of the three nondiagnostic biopsies was done because of severe autolysis of the liver. There was one subcapsular hematoma, one hepatic arteriovenous fistula, and one liver capsular puncture. Two minor neck hematomas occurred. One death was reported (unrelated to the procedure). QCB needle TJLBx is an effective and relatively safe way to obtain core liver samples.     

Dok1 encoding p62(dok) maps to mouse chromosome 6 and human chromosome 2 in a region of translocation in chronic lymphocytic leukemia

A case of chronic myelogenous leukemia (CML) terminating in acute megakaryoblastic leukemia (AMKL) is here presented. Megakaryoblasts were identified by the presence of platelet peroxidase in the bone marrow as well as in pleural effusion and ascites. The clinical course, morphology and immunologic studies of the blast cells are described in this report.     

P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3

STUDY DESIGN: A case report. OBJECTIVES: To document a fracture of the 11th thoracic vertebra after spine fusion for adult idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Three cases of vertebral fractures associated with spine fusion for scoliosis were found in the literature. METHODS: Medical and radiologic records and related literature were reviewed. RESULTS: A 30-year-old woman had undergone anterior and posterior fusion with Cotrel-Dubousset instrumentation for progressive idiopathic scoliosis. Two years after surgery, she was in a car accident. A radiographic study and computer tomographic scanning depicted a fracture of T11 and bending of the rods. Observation was instituted and symptoms resolved. CONCLUSIONS: Fracture of a vertebra within an extensive spine fusion for scoliosis is rare. The 360 degrees solid fusion together with strong posterior instrumentation may have had some protective effect in this patient.     

The porcine TTR locus maps to chromosome 6q

The sequence of a cDNA clone encoding porcine transthyretin (prealbumin) was used to develop polymorphic markers for the TTR locus. The single-strand conformation polymorphism (SSCP) detected is caused by a silent A/T mutation in the penultimate coding codon and can also be revealed as a SacI restriction fragment length polymorphism (RFLP). The TTR locus was mapped to chromosome 6q by segregation and linkage analysis with these polymorphisms. This assignment confirms the predictions of homology between human chromosome 18 and pig chromosome 6q2.5-q2.6.