ABSTRACT
This article reported a male neonate with Smith-Lemli-Opitz syndrome (SLOS) caused by DHCR7 gene compound heterozygous variations. The patient presented with multiple malformations and feeding difficulties after birth and was transferred to the First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital) from a local hospital eight days later. Physical examination found general scleredema, scalp defects, short penis, urinary tract malformation, bilateral syndactyly of the second and third toes, and low serum cholesterol. Whole-exome and Sanger sequencing indicated a compound heterozygous mutation in the DHCR7 gene, c.852C>A(p.F284L), and a de novo mutation of c.820_825del(p.N274_V275del). SLOS is rare in the Asian populations and prone to missed diagnosis and misdiagnosis with difficulty in clinical management. The possibility of SLOS should be considered for newborns with multiple malformations and low serum cholesterol.
ABSTRACT
This article reported a case of nemaline myopathy caused by KLHL40 gene complex heterozygous mutations. This baby girl presented with shortness of breath, low myodynamia, and low muscle tension immediately after birth. However, her symptoms became worse after conventional treatment. Physical examination found lower muscle strength and muscle tone in four limbs and no primitive reflexes. The biochemistry test showed increased serum creatine kinase (CK). A muscle biopsy was not performed. The second-generation gene test confirmed the KLHL40 gene complex heterozygous mutations, which was a known mutation c.932G>T (p.R311L) and a de novo mutation c.1487T>A (p.M496K), inherited from the father and mother, respectively. Nemaline myopathy is a rare congenital muscular disease characterized by nemaline bodies in muscle fibers. Pathological and genetic diagnoses are the gold standards for the diagnosis of this disease.
ABSTRACT
OBJECTIVE@#To develop a fiber Raman endoscopic probe that can be integrated in a gastroscope and evaluate its value in the diagnosis of gastric cancer.@*METHODS@#The Raman spectra of gastric cancer tissues and normal tissues were obtained using the fiber Raman endoscopic probe and confocal microRaman spectroscopy. After preprocessing with smoothing, baseline elimination and normalization, the spectroscopic data were analyzed by the principle component analyses combined with stechiometry. Based on the pathological results, the diagnostic accuracy, sensitiveness and specificity of Raman spectroscopy combined with stechiometry were evaluated.@*RESULTS@#The fiber Raman endoscopic probe and microRaman spectroscopy revealed significantly different Raman spectra between gastric cancer tissues and normal tissues. The diagnostic accuracy, sensitiveness and specificity of the fiber Raman endoscopic probe was 80.56%, 88.89%, and 84.72% for gastric cancer, respectively.@*CONCLUSIONS@#The fiber Raman endoscopic probe combined with stechiometry provides an effective modality for the diagnosis of gastric cancer and can well distinguish gastric cancer tissue from normal gastric tissues.
Subject(s)
Humans , Endoscopy , Fiber Optic Technology , Sensitivity and Specificity , Spectrum Analysis, Raman , Stomach NeoplasmsABSTRACT
Objective To explore the clinical value of the monitoring of electronic cardiac index (CI) in the evaluation of neonatal congenital heart disease complicated with heart failure. Methods Sixty neonates with congenital heart disease treated in neonatal department from March 1, 2016 to December 30, 2016 were selected, and divided into severe group (n=11), moderate group (n=15), mild group (n=34), and no heart failure group (n=10) according to the modified Ross heart failure score. CI was measured by electronic force measurement. Left ventricular ejection fraction (LVEF) and pulmonary arterial pressure (PAP) were measured by echocardiography. Venous blood sampling was collected to detect the N-terminal type B brain natriuretic peptide (NT-proBNP). Results The neonates in the severe group were mainly under 2-week-old, while those in the mild group and the moderate group were more than 2-week-old. The differences of CI, LVEF, NT-proBNP, and PAP among the groups were statistically different. The CI and LVEF values were lowest in the severe group, followed by moderate group and mild group, and the highest in no heart failure group. The NT-proBNP and PAP values were the highest in the severe group, followed by moderate group and mild group, and the lowest in no heart failure group. Correlation analysis showed that CI was positively correlated with LVEF (r=0.845, P<0.001), and negatively correlated with NT-proBNP (r=-0.886, P<0.001); CI and PAP were weakly negatively correlated (r=-0.595, P<0.001). Conclusions CI reflects the degree of heart failure to some extent and has some clinical value.
ABSTRACT
Objective To explore the clinical value of the monitoring of electronic cardiac index (CI) in the evaluation of neonatal congenital heart disease complicated with heart failure. Methods Sixty neonates with congenital heart disease treated in neonatal department from March 1, 2016 to December 30, 2016 were selected, and divided into severe group (n=11), moderate group (n=15), mild group (n=34), and no heart failure group (n=10) according to the modified Ross heart failure score. CI was measured by electronic force measurement. Left ventricular ejection fraction (LVEF) and pulmonary arterial pressure (PAP) were measured by echocardiography. Venous blood sampling was collected to detect the N-terminal type B brain natriuretic peptide (NT-proBNP). Results The neonates in the severe group were mainly under 2-week-old, while those in the mild group and the moderate group were more than 2-week-old. The differences of CI, LVEF, NT-proBNP, and PAP among the groups were statistically different. The CI and LVEF values were lowest in the severe group, followed by moderate group and mild group, and the highest in no heart failure group. The NT-proBNP and PAP values were the highest in the severe group, followed by moderate group and mild group, and the lowest in no heart failure group. Correlation analysis showed that CI was positively correlated with LVEF (r=0.845, P<0.001), and negatively correlated with NT-proBNP (r=-0.886, P<0.001); CI and PAP were weakly negatively correlated (r=-0.595, P<0.001). Conclusions CI reflects the degree of heart failure to some extent and has some clinical value.
ABSTRACT
Objective To evaluate CT diagnositic value for endo-bronchial tuberculosis(TB).Methods CT findings of 14 cases with endo-bronchial TB proved by fibro-bronscopy(FOB) were studied retrospectively.Results The bronchiarctia was seen at lobar bronchas or segmental bronchas in all 14 cases.Of them,in 6 cases,the bronchiarctia appeared as conic stenosis accompanied with atelactasis and a large amount of plearal effusions,in 8 cases,the bronchial walls were thichened including centrality stenosis in 3 cases,unilateral stenosis in 5 cases and accompanied with polyus in 3 cases.No hilar mass and opposite "S" sign were found.The "bronchial air sign" was showed at the area of ateectasis.9 cases were accompanied by active pulmonary TB(64.3%).Conclusion CT is of important value in diagnosing endo-bronchial TB and differentiating the tumorous or no-tumorous bronchiarctia,while the diagnonsis at early stage of this disease has to depend on FOB.