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
AIM: To investigate the frequency of anatomical variations in sinonasal region and association of these variations with mucosal diseases. METHODS: The study included 400 cases(191 female and 209 male) who were conside...AIM: To investigate the frequency of anatomical variations in sinonasal region and association of these variations with mucosal diseases. METHODS: The study included 400 cases(191 female and 209 male) who were considered to have preliminary diagnoses of sinonasal pathology and who had paranasal sinus computed tomography(CT) examination in axial plane. Reformatted CT images were studied in all planes.RESULTS: Age range of the patients was 20-83(mean 40.26 ± 14.85). Most commonly detected anatomical variation was Agger nasi cell(74.8%). There was a significant association between clinoid process pneumatization and protrusion of internal carotid arteries and optic nerves into sphenoid sinus(P < 0.001). Besides,the relationships between pterygoid process pneumatization and protrusion of vidian nerve into sphenoid sinus,and between pneumatization of large sphenoid wing and protrusion of maxillary nerves into sphenoid sinus were also significant(P < 0.001). Uncinate bulla and giant ethmoid bulla were found to be significantly associated with sinonasal mucosal diseases(P = 0.004 and P = 0.002,respectively).CONCLUSION: Sinonasal region has a great number of variations,and some of them have been determined to be associated with sinonasal mucosal disease. It is necessary to know that some of these variations are associated with protrusion of significant structures such as carotid artery or optic nerve into the sinus and care should be observed in surgeries on patients carrying these variations.展开更多
Introduction: The main signs and symptoms of ankyloglossia with deviation of the epiglottis and larynx (ADEL) are sleep disorders caused by respiratory restraint. The author contrived the surgical procedure of correct...Introduction: The main signs and symptoms of ankyloglossia with deviation of the epiglottis and larynx (ADEL) are sleep disorders caused by respiratory restraint. The author contrived the surgical procedure of correction of the glosso-larynx (CGL) and expansion of the vestibular oris (EVO) for the cure of ADEL. CGL increases vital capacity (VC) and forced expiratory volume in 1 second (1% FEV). EVO reduces nasal airflow resistance. The most important component of nasal airflow resistance is the nasal valve. Purpose: Our purpose was to measure how wide the nares were dilated after EVO. Method: The width of the nares, height of the nose, length of the philtrum and width of the lip were measured in patients who had signs and symptoms of ADEL, before and after EVO. Result: Significant increases were observed in the width of the nares, height of the nose and length of the lip after EVO. Conclusion: This study confirmed that the nares dilate after EVO. Not only the amelioration of nasal respiration by EVO increases immunity, but also aesthetic effects are obtained after EVO.展开更多
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.
文摘AIM: To investigate the frequency of anatomical variations in sinonasal region and association of these variations with mucosal diseases. METHODS: The study included 400 cases(191 female and 209 male) who were considered to have preliminary diagnoses of sinonasal pathology and who had paranasal sinus computed tomography(CT) examination in axial plane. Reformatted CT images were studied in all planes.RESULTS: Age range of the patients was 20-83(mean 40.26 ± 14.85). Most commonly detected anatomical variation was Agger nasi cell(74.8%). There was a significant association between clinoid process pneumatization and protrusion of internal carotid arteries and optic nerves into sphenoid sinus(P < 0.001). Besides,the relationships between pterygoid process pneumatization and protrusion of vidian nerve into sphenoid sinus,and between pneumatization of large sphenoid wing and protrusion of maxillary nerves into sphenoid sinus were also significant(P < 0.001). Uncinate bulla and giant ethmoid bulla were found to be significantly associated with sinonasal mucosal diseases(P = 0.004 and P = 0.002,respectively).CONCLUSION: Sinonasal region has a great number of variations,and some of them have been determined to be associated with sinonasal mucosal disease. It is necessary to know that some of these variations are associated with protrusion of significant structures such as carotid artery or optic nerve into the sinus and care should be observed in surgeries on patients carrying these variations.
文摘Introduction: The main signs and symptoms of ankyloglossia with deviation of the epiglottis and larynx (ADEL) are sleep disorders caused by respiratory restraint. The author contrived the surgical procedure of correction of the glosso-larynx (CGL) and expansion of the vestibular oris (EVO) for the cure of ADEL. CGL increases vital capacity (VC) and forced expiratory volume in 1 second (1% FEV). EVO reduces nasal airflow resistance. The most important component of nasal airflow resistance is the nasal valve. Purpose: Our purpose was to measure how wide the nares were dilated after EVO. Method: The width of the nares, height of the nose, length of the philtrum and width of the lip were measured in patients who had signs and symptoms of ADEL, before and after EVO. Result: Significant increases were observed in the width of the nares, height of the nose and length of the lip after EVO. Conclusion: This study confirmed that the nares dilate after EVO. Not only the amelioration of nasal respiration by EVO increases immunity, but also aesthetic effects are obtained after EVO.
