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1.
Sarala Rajajee Malathi Sathyasekaran Janani Shankar Latha Dhathathri Anandnathan 《Indian journal of pediatrics》2002,69(10):821-822
A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to
similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than
50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed
hypolipidemia and absent Β hypo protein band. Jejuna) mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which
revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in
streamlining further tests in the diagnosis of major diseases. 相似文献
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We studied the relationship between arterial carbon dioxide tension (PaCO2) and fresh gas flow (FGF) during use of the Bain breathing circuit for Caesarean section anaesthesia. Thirty-one patients undergoing Caesarean section were anaesthetised using the Bain circuit with intermittent positive pressure ventilation. The PaCO2 were measured at FGF of 70 ml X kg-1 X min-1, 80 ml X kg-1 X min-1, and 100 ml X kg-1 X min-1. The FGF requirement to maintain a given PaCO2 during Caesarean section anaesthesia is the same as the requirements for nonpregnant subjects, despite the increase in carbon dioxide production associated with pregnancy. This is probably because the total FGF determined by body weight and given during Caesarean section anaesthesia is 15-20 per cent higher than nonpregnant levels, due to the weight gain associated with pregnancy. A FGF of 100 ml X kg-1 of pregnant weight/min maintains PaCO2 of 4.44 kPa predelivery, which is in the desirable range of PaCO2 during Caesarean section. 相似文献
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We observed a 7-year-old boy with virtual absence of renal tubular glucose reabsorption (type O renal glucosuria). Glucose titration studies in his family revealed severe type A renal glucosuria in a younger brother, a mild type A defect in the mother and normal glucose reabsorption in the father; thus a spectrum of renal glucose transport defects was observed in members of the same family. 相似文献
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Hari Shankar Sharma N. K. Majumder V. Srinivas S. Gopalakrishnan 《Indian journal of otolaryngology and head and neck surgery》1988,40(3):105-106
Rarity of the carcinoid tumours in the larynx prompted us to report this case which has been successfully treated by partial laryngectomy. Oncogenesis of these tumours, mode of treatment and prognosis have been discussed. 相似文献
8.
Karen W. Gripp Lindsey A. Morse Marni Axelrad Kathryn C. Chatfield Aaron Chidekel William Dobyns Daniel Doyle Bronwyn Kerr Angela E. Lin David D. Schwartz Barbara J. Sibbles Dawn Siegel Suma P. Shankar David A. Stevenson Mihir M. Thacker K. Nicole Weaver Sue M. White Katherine A. Rauen 《American journal of medical genetics. Part A》2019,179(9):1725-1744
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence‐based guidelines due to the lack of data for this rare condition. 相似文献
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INTRODUCTION: Individuals who have difficulty gaining access to health care may delay seeking and obtaining treatment, underutilize preventive health care services, and may have a high prevalence of chronic disease risks. This report examines participant perception of the level of difficulty encountered when obtaining medical care and its influence on the prevalence of chronic disease behavioral risks among urban African Americans. RESULTS: We found a significantly higher prevalence of current cigarette smoking and alcohol consumption among African Americans who reported that they experienced difficulty in obtaining medical care than among those who did not. Compared to those who experienced no difficulty obtaining care, participants who perceived a high level of difficulty in obtaining care were less likely to have had a physical exam in the past year and to have seen the same doctor when services were obtained. CONCLUSION: The perception of a high level of difficulty obtaining health care may be associated with a higher prevalence of behavioral risks for chronic disease. The limited data suggest a need to more closely examine the perception of health care accessibility and its relationship to health services utilization and the prevalence of chronic disease behavioral risks. 相似文献