Congenital duodenal obstruction is rare in adulthood. An unusual presentation of this condition has led to difficult preoperative diagnosis.We present a case of proximal jejunal obstruction by a congenital band in an ...Congenital duodenal obstruction is rare in adulthood. An unusual presentation of this condition has led to difficult preoperative diagnosis.We present a case of proximal jejunal obstruction by a congenital band in an adult and review the literature.展开更多
Systemic mastocytosis (SM) is a rare disease with abnormal proliferation and infiltration of mast cells in the skin, bone marrow, and viscera including the mucosal surfaces of the digestive tract. Gastrointestinal (GI...Systemic mastocytosis (SM) is a rare disease with abnormal proliferation and infiltration of mast cells in the skin, bone marrow, and viscera including the mucosal surfaces of the digestive tract. Gastrointestinal (GI) symptoms occur in 14%-85% of patients with systemic mastocytosis. The GI symptoms may be as frequent as the better known pruritis, urticaria pigmentosa, and flushing. In fact most recent studies show that the GI symptoms are especially important clinically due to the severity and chronicity of the effects that they produce. GI symptoms may include abdominal pain, diarrhea, nausea, vomiting, and bloating. A case of predominantly GI systemic mastocytosis with unique endoscopic images and pathologic confirmation is herein presented, as well as a current review of the GI manifestations of this disease including endoscopic appearances. Issues such as treatment and prognosis will not be discussed for the purposes of this paper.展开更多
An improved direction of arrival (DOA) estimation algorithm with sensor gain and phase uncertainties for synchronous code division multiple access(CDMA) system with decorrelator is presented. Through decorrelating pro...An improved direction of arrival (DOA) estimation algorithm with sensor gain and phase uncertainties for synchronous code division multiple access(CDMA) system with decorrelator is presented. Through decorrelating processing DOAs of the desired users can be estimated independently and all other resolved signal interferences are eliminated. Emphasis is directed to applications in which sensor gain and phase are perturbed that often happen actually. It is shown that improved DOA estimation can be achieved for decoupled signals by gain and phase pre estimation procedures.展开更多
In order to describe the magnetic resonance imaging (MRI) findings in hypothalamic-pituitary area and its clinical relevance in patients with idiopathic growth hormone deficiency (IGHD), the MR imagings of 26 patients...In order to describe the magnetic resonance imaging (MRI) findings in hypothalamic-pituitary area and its clinical relevance in patients with idiopathic growth hormone deficiency (IGHD), the MR imagings of 26 patients with IGHD were analyzed. On MRI, 24 out of 26 cases (92. 3%) showed apparent pituitary upper margin depression; 8 out of 26 cases (30. 8%) showed definite pituitary stalk transection; 22 out of 26 cases (84. 6%) showed absence of the normal posterior pituitary bright spot. The bright lipidlike signal on T1W1 images at the median eminence distal to the breaking point (so-called ectopic posterior lobe) was found in 4 out of 26 cases (15. 4%). According to the MRI findings of the pituitary stalks, the 26 cases were divided into three groups; group A of 8 cases (31%) characterized by the definite transaction of stalk; group B of 13 cases (50%) defined by the possible stalk transection; and group C of 5 cases (19%) with no definite stalk transection.MRI findings were consistent with the clinical and endocrine tests. The stalk transection was statistically significantly difference in insulin test, L-dopa/p test, and height standard deviation score (P< 0.05). The MRI of hypothalamic-pituitary area may differentiate partial IGHD form stalk-transected, doubtful transection and without transection.展开更多
Objective:To describe the characteristics of the clinical presentation,diagnosis,surgical methods,and outcomes of patients with otogenic cerebrospinal fluid(CSF)leakage secondary to congenital inner ear dysplasia.Meth...Objective:To describe the characteristics of the clinical presentation,diagnosis,surgical methods,and outcomes of patients with otogenic cerebrospinal fluid(CSF)leakage secondary to congenital inner ear dysplasia.Methods:A retrospective review was performed of 18 patients with otogenic CSF leakage secondary to inner ear dysplasia who underwent surgery in our group from 2007 to 2017 and had a follow-up of at least 4 months.The average length of follow-up was three years.The characteristics of the clinical presentations of all patients,such as self-reported symptoms,radiographic findings,surgical approaches and methods of repair,position of the leakage during surgery,and postoperative course,including the success rate of surgery,are presented.Results:The patients presented mostly with typical symptoms of meningitis,severe hearing impairment,and CSF otorrhea or rhinorrhea.All 18 patients had at least one previous episode of meningitis accompanied by a severe hearing impairment.The preoperative audiograms of 17 patients showed profound sensorineural hearing loss,and one patient had conductive hearing loss.Twelve patients presented with an initial onset of otorrhea,and two had accompanying rhinorrhea.Six patients complained of rhinorrhea,two of whom were misdiagnosed with CSF rhinorrhea and underwent transnasal endoscopy at another hospital.High-resolution computed tomography(HRCT)images can reveal developments in the inner ear,such as expansion of a vestibular cyst,unclear structure of the semicircular canal or cochlea,or signs of effusion in the middle ear or mastoid,which strongly suggest the possibility of CSF otorrhea.The children in the study suffered more severe dysplasia than adults.All 18 patients had CSF leakage identified during surgery.The most common defect sites were in the stapes footplates(55.6%),and 38.9%of patients had a leak around the oval window.One patient had a return of CSF otorrhea during the postoperative period,which did not re-occur following a second repair.Conclusions:CSF otorrhea due to congenital inner ear dysplasia is more severe in children than in adults.The most common symptoms were meningitis,hearing impairment,and CSF otorrhea or rhinorrhea.HRCT has high diagnostic accuracy for this disease.The most common fistula site was around the oval window,including the stapes footplates and the annular ligament.展开更多
Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we pre...Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268delA） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.展开更多
文摘Congenital duodenal obstruction is rare in adulthood. An unusual presentation of this condition has led to difficult preoperative diagnosis.We present a case of proximal jejunal obstruction by a congenital band in an adult and review the literature.
文摘Systemic mastocytosis (SM) is a rare disease with abnormal proliferation and infiltration of mast cells in the skin, bone marrow, and viscera including the mucosal surfaces of the digestive tract. Gastrointestinal (GI) symptoms occur in 14%-85% of patients with systemic mastocytosis. The GI symptoms may be as frequent as the better known pruritis, urticaria pigmentosa, and flushing. In fact most recent studies show that the GI symptoms are especially important clinically due to the severity and chronicity of the effects that they produce. GI symptoms may include abdominal pain, diarrhea, nausea, vomiting, and bloating. A case of predominantly GI systemic mastocytosis with unique endoscopic images and pathologic confirmation is herein presented, as well as a current review of the GI manifestations of this disease including endoscopic appearances. Issues such as treatment and prognosis will not be discussed for the purposes of this paper.
文摘An improved direction of arrival (DOA) estimation algorithm with sensor gain and phase uncertainties for synchronous code division multiple access(CDMA) system with decorrelator is presented. Through decorrelating processing DOAs of the desired users can be estimated independently and all other resolved signal interferences are eliminated. Emphasis is directed to applications in which sensor gain and phase are perturbed that often happen actually. It is shown that improved DOA estimation can be achieved for decoupled signals by gain and phase pre estimation procedures.
文摘In order to describe the magnetic resonance imaging (MRI) findings in hypothalamic-pituitary area and its clinical relevance in patients with idiopathic growth hormone deficiency (IGHD), the MR imagings of 26 patients with IGHD were analyzed. On MRI, 24 out of 26 cases (92. 3%) showed apparent pituitary upper margin depression; 8 out of 26 cases (30. 8%) showed definite pituitary stalk transection; 22 out of 26 cases (84. 6%) showed absence of the normal posterior pituitary bright spot. The bright lipidlike signal on T1W1 images at the median eminence distal to the breaking point (so-called ectopic posterior lobe) was found in 4 out of 26 cases (15. 4%). According to the MRI findings of the pituitary stalks, the 26 cases were divided into three groups; group A of 8 cases (31%) characterized by the definite transaction of stalk; group B of 13 cases (50%) defined by the possible stalk transection; and group C of 5 cases (19%) with no definite stalk transection.MRI findings were consistent with the clinical and endocrine tests. The stalk transection was statistically significantly difference in insulin test, L-dopa/p test, and height standard deviation score (P< 0.05). The MRI of hypothalamic-pituitary area may differentiate partial IGHD form stalk-transected, doubtful transection and without transection.
基金Project supported by the National Natural Science Foundation of China(Nos.81570914 and 81700925)
文摘Objective:To describe the characteristics of the clinical presentation,diagnosis,surgical methods,and outcomes of patients with otogenic cerebrospinal fluid(CSF)leakage secondary to congenital inner ear dysplasia.Methods:A retrospective review was performed of 18 patients with otogenic CSF leakage secondary to inner ear dysplasia who underwent surgery in our group from 2007 to 2017 and had a follow-up of at least 4 months.The average length of follow-up was three years.The characteristics of the clinical presentations of all patients,such as self-reported symptoms,radiographic findings,surgical approaches and methods of repair,position of the leakage during surgery,and postoperative course,including the success rate of surgery,are presented.Results:The patients presented mostly with typical symptoms of meningitis,severe hearing impairment,and CSF otorrhea or rhinorrhea.All 18 patients had at least one previous episode of meningitis accompanied by a severe hearing impairment.The preoperative audiograms of 17 patients showed profound sensorineural hearing loss,and one patient had conductive hearing loss.Twelve patients presented with an initial onset of otorrhea,and two had accompanying rhinorrhea.Six patients complained of rhinorrhea,two of whom were misdiagnosed with CSF rhinorrhea and underwent transnasal endoscopy at another hospital.High-resolution computed tomography(HRCT)images can reveal developments in the inner ear,such as expansion of a vestibular cyst,unclear structure of the semicircular canal or cochlea,or signs of effusion in the middle ear or mastoid,which strongly suggest the possibility of CSF otorrhea.The children in the study suffered more severe dysplasia than adults.All 18 patients had CSF leakage identified during surgery.The most common defect sites were in the stapes footplates(55.6%),and 38.9%of patients had a leak around the oval window.One patient had a return of CSF otorrhea during the postoperative period,which did not re-occur following a second repair.Conclusions:CSF otorrhea due to congenital inner ear dysplasia is more severe in children than in adults.The most common symptoms were meningitis,hearing impairment,and CSF otorrhea or rhinorrhea.HRCT has high diagnostic accuracy for this disease.The most common fistula site was around the oval window,including the stapes footplates and the annular ligament.
基金Project supported by the Department of Education of Zhejiang Province(No.Y201430646),China
文摘Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268delA） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.
