Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement...Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.展开更多
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,s...Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.展开更多
[Objective]The research aimed to analyze formation reason of ＂ 0902＂ blizzard in northeast China. [Method]By using timely observation data,NCEP reanalysis data and Doppler radar data at Baishan station,blizzard proc...[Objective]The research aimed to analyze formation reason of ＂ 0902＂ blizzard in northeast China. [Method]By using timely observation data,NCEP reanalysis data and Doppler radar data at Baishan station,blizzard process in southeast part of northeast China during 12-13 February,2009 was analyzed. [Result]Snowfall zone of the blizzard process was wide,snowfall was more,snowfall gradient was big,and snowfall time relatively concentrated. These characteristics reflected that the blizzard process had significant convection characteristics. Baroclinic disturbance at high-altitude straight frontal zone and ground warm frontogenesis caused by eastward movement and northward advancement of North China low vortex at low altitude were the circulation characteristics in the process. Water vapor from the sea went northward as southwest airflow,and strongly converged in blizzard zone,which provided sufficient water vapor condition for the blizzard. Before heavy snowfall occurred,there was accumulation process of heat and energy. Conditional symmetric instability was main unstable mechanism of the blizzard. During heavy snowfall period,ascending branch of secondary vertical circulation at exit zone of high-altitude jet coupled with ascending branch of secondary vertical circulation of warm frontegenesis at low layer,inducing strong development of the vertical motion. Doppler radar intensity echo revealed that it was easy to generate blizzard in the area where echo intensity was consistently above 20 dBz. Strong wind velocity convergence zone at radical velocity field especially adverse wind zone was favorable for the generation of blizzard. [Conclusion]The research could provide reference for blizzard forecast in northeast China.展开更多
Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including devel...Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.展开更多
文摘Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.
基金Supported by Grant from the German Research Foundation (DFG) to MZ
文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
文摘[Objective]The research aimed to analyze formation reason of ＂ 0902＂ blizzard in northeast China. [Method]By using timely observation data,NCEP reanalysis data and Doppler radar data at Baishan station,blizzard process in southeast part of northeast China during 12-13 February,2009 was analyzed. [Result]Snowfall zone of the blizzard process was wide,snowfall was more,snowfall gradient was big,and snowfall time relatively concentrated. These characteristics reflected that the blizzard process had significant convection characteristics. Baroclinic disturbance at high-altitude straight frontal zone and ground warm frontogenesis caused by eastward movement and northward advancement of North China low vortex at low altitude were the circulation characteristics in the process. Water vapor from the sea went northward as southwest airflow,and strongly converged in blizzard zone,which provided sufficient water vapor condition for the blizzard. Before heavy snowfall occurred,there was accumulation process of heat and energy. Conditional symmetric instability was main unstable mechanism of the blizzard. During heavy snowfall period,ascending branch of secondary vertical circulation at exit zone of high-altitude jet coupled with ascending branch of secondary vertical circulation of warm frontegenesis at low layer,inducing strong development of the vertical motion. Doppler radar intensity echo revealed that it was easy to generate blizzard in the area where echo intensity was consistently above 20 dBz. Strong wind velocity convergence zone at radical velocity field especially adverse wind zone was favorable for the generation of blizzard. [Conclusion]The research could provide reference for blizzard forecast in northeast China.
文摘Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.
