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991.
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) 总被引:7,自引:3,他引:7
Bonnemann CG; Passos-Bueno MR; McNally EM; Vainzof M; de Sa Moreira E; Marie SK; Pavanello RC; Noguchi S; Ozawa E; Zatz M; Kunkel LM 《Human molecular genetics》1996,5(12):1953-1961
Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are
genetically heterogeneous. A subgroup of these disorders is caused by
mutations in the dystrophin-associated sarcoglycan complex. Truncating
mutations in the 43 kDa beta-sarcoglycan gene (LGMD 2E) were originally
identified in a sporadic case of Duchenne-like muscular dystrophy, and a
common missense mutation (T151R) was identified independently in Indiana
Amish pedigrees with a milder form of LGMD. To facilitate mutational
analysis of larger numbers of patients directly from genomic DNA, as
opposed to reverse transcribed RNA from muscle biopsies, we have determined
the genomic structure of the beta-sarcoglycan gene. The open reading frame
of the beta-sarcoglycan coding region extends over six exons. Primers were
designed for PCR amplification of single exons from genomic DNA and
subsequent single strand conformation polymorphism (SSCP) analysis. We
screened 15 patients from the Brazilian LGMD patient population, 13 of whom
followed a severe course. Most of the patients had been assessed previously
for deficiency of alpha- sarcoglycan immunofluorescence on muscle biopsy
sections as a marker for disease of the sarcoglycan complex. Novel
mutations in two familial and two sporadic cases of severe childhood-onset
LGMD were identified. Only one of these patients carried a truncating
mutation (homozygous 2 bp deletion, FS164TER), while the other three
carried missense mutations (homozygous R91P, homozygous M100K, heterozygous
recessive L108R; only one allele could be identified in this family). All
three missense mutations occurred in exon 3, coding for the immediate
extracellular domain. Complete absence for all three of the known
sarcoglycans was noted by immunohistochemistry on muscle biopsy sections of
the patients.
相似文献
992.
K Babu M Sonnenberg S Kathpalia P Ortega A L Swiatlo F E Kocka 《Journal of clinical microbiology》1990,28(2):361-362
Salmonella arizonae and other Salmonella serovars were isolated from four different rattlesnake preparations which were used for self-treatment of various diseases. A case of disseminated S. arizonae infection is reported in a patient who had acquired immunodeficiency syndrome and ingested dried rattlesnake. 相似文献
993.
Mother and son with deletion of 3p25-pter 总被引:3,自引:0,他引:3
J Tazelaar J Roberson D L Van Dyke V R Babu L Weiss 《American journal of medical genetics》1991,39(2):130-132
We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother. 相似文献
994.
When fungi interact with plants as pathogens or as symbionts, there are often changes in fungal cell morphology and nuclear state. This study establishes the use of cDNA microarrays to detect gene expression changes in Ustilago maydis cells that differ in structure and nuclear content. Categorizing differentially expressed genes on the basis of function indicated that U. maydis cell types vary most in the expression of genes related to metabolism. We also observed that more genes are up-regulated in the filamentous dikaryon than in the filamentous diploid, relative to non-pathogenic budding cells. Our comparison of pathogenic development indicated that the dikaryon is more virulent than the diploid. Other identified expression patterns suggest a cell-specific difference in nutrient acquisition, cell metabolism and signal transduction. The relevance of gene expression change to cell type biology is discussed.Electronic Supplementary Material Supplementary material is available for this article at 相似文献
995.
E H Kim R S Cohen P Ramachandran A K Mineta V R Babu 《American journal of medical genetics》1992,44(4):437-438
We report on a liveborn premature male with trisomy 22 who had multiple congenital anomalies, including congenital diaphragmatic hernia and absence of corpus callosum. He died of pulmonary hypoplasia associated with diaphragmatic hernia within 12 hours of age. Chromosome analysis by multiple banding techniques based on lymphocyte culture confirmed that he had trisomy 22. This may be the first report of congenital diaphragmatic hernia and isolated absence of corpus callosum associated with trisomy 22. 相似文献
996.
R. Griffiths S. Babu P. Dixon N. Freeman D. Hurford E. Kelleher I. Moppett D. Ray O. Sahota M. Shields S. White 《Anaesthesia》2021,76(2):225-237
We convened a multidisciplinary Working Party on behalf of the Association of Anaesthetists to update the 2011 guidance on the peri-operative management of people with hip fracture. Importantly, these guidelines describe the core aims and principles of peri-operative management, recommending greater standardisation of anaesthetic practice as a component of multidisciplinary care. Although much of the 2011 guidance remains applicable to contemporary practice, new evidence and consensus inform the additional recommendations made in this document. Specific changes to the 2011 guidance relate to analgesia, medicolegal practice, risk assessment, bone cement implantation syndrome and regional review networks. Areas of controversy remain, and we discuss these in further detail, relating to the mode of anaesthesia, surgical delay, blood management and transfusion thresholds, echocardiography, anticoagulant and antiplatelet management and postoperative discharge destination. Finally, these guidelines provide links to supplemental online material that can be used at readers' institutions, key references and UK national guidance about the peri-operative care of people with hip and periprosthetic fractures during the COVID-19 pandemic. 相似文献
997.
Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1 and MCPH5 have been identified so far. We have ascertained nine consanguineous families with primary microcephaly from India. To establish linkage of these nine families to known MCPH loci, microsatellite markers were selected from the candidate regions of each of the six known MCPH loci and used to genotype the families. The results were suggestive of linkage of three families to the MCPH5 locus and one family to the MCPH2 locus. The remaining five families were not linked to any of the known loci. DNA-sequence analysis identified one known (Arg117X) and two novel (Trp1326X and Gln3060X) mutations in the three MCPH5-linked families in a homozygous state. Three novel normal population variants (i.e., c.7605G > A, c.4449G > A, and c.5961 A > G) were also detected in the ASPM gene. 相似文献
998.
Anatomic basis of Arnold's ear-cough reflex 总被引:1,自引:0,他引:1
A clinical survey of 500 patients revealed 4.2% incidence of Arnold's ear-cough reflex. The reflex was bilateral in 2.8% of the patients. It was also elicitable from the anterior meatal wall in 2% of the patients, thus questioning the classically taught distribution of Arnold's nerve. Arnold's nerve also mediates the auriculo-palatal, auriculo-lacrimal, auriculo-cardiac and the ear-vomiting reflexes; but these are less apparent and not so commonly encountered. 相似文献
999.
Ashok R Anuradha K Babu SS Bheerappa N Sastry RA Lakshmi V 《Indian journal of medical microbiology》2004,22(4):260-262
Methicillin resistant Stephylococcus aureus (MRSA) infection has now become a major problem in hospitals. We present a case of postoperative infection MRSA where the primary source of the infection was found to be an abdominal mesh that was used to reinforce the abdominal wall. After one year of surgery, the patient developed wound dehiscence and discharge. MRSA was isolated from the wound, mesh, external nares, throat and axilla. Initially she was started on clindamycin and discharged from the hospital. After 5 months, patient came back to the hospital with infection at the same site. The patient was then treated with vancomycin and MRSA clearance. She responded to the treatment with complete healing of the wound and clearance of MRSA. 相似文献
1000.
J. M. Naidu B. V. Babu Y. S. Kusuma Yasmin S. Sachi Devi 《American journal of human biology》1995,7(5):589-595
The effects of inbreeding on reproductive outcome in terms of fertility and mortality were analyzed in seven tribal populations from Andhra Pradesh, India. The effect on mortality at both prenatal and prereproductive postnatal stages was further verified after estimating genetic load by an exponential regression model. Relatively higher fertility and mortality rates were recorded among consanguineous marriages than nonconsanguineous unions in the majority of tribes. The regression analysis indicated a positive, nonsignificant association between inbreeding and mortality in five tribes. Low B/A ratios were found in five tribes. © 1995 Wiley-Liss, Inc. 相似文献