2.Prenatal diagnosis and genetic analysis of three fetuses with duodenal atresia or stenosis.
Na CHEN ; Wenshan ZENG ; Xiaoyang GAO ; Yuqin LUO
Chinese Journal of Medical Genetics 2023;40(12):1484-1488
OBJECTIVE:
To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography.
METHODS:
Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis.
RESULTS:
Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs).
CONCLUSION
The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.
Pregnancy
;
Humans
;
Female
;
DNA Copy Number Variations
;
Constriction, Pathologic
;
Prenatal Diagnosis
;
Fetus/diagnostic imaging*
;
Chromosome Aberrations
3.Clinical and bronchoscopy features of tracheobronchial tuberculosis in children.
Shuai PENG ; Guang-Li ZHANG ; Jing-Xian HONG ; Hao DING ; Chong-Jie WANG ; Jian LUO ; Zheng-Xiu LUO
Chinese Journal of Contemporary Pediatrics 2023;25(4):381-387
OBJECTIVES:
To study the clinical and bronchoscopic characteristics of tracheobronchial tuberculosis (TBTB) in children and to identify factors influencing residual airway obstruction or stenosis.
METHODS:
The clinical data of children with TBTB were retrospectively collected. The children were divided into two groups based on the last bronchoscopic result within one year of follow-up: a group with residual airway obstruction or stenosis (n=34) and a group without residual airway obstruction or stenosis (n=58). A multivariate logistic regression analysis was used to identify the factors influencing residual airway obstruction or stenosis in children with TBTB. Receiver operating characteristic (ROC) curves were used to analyze the predictive value of the factors influencing residual airway obstruction or stenosis in children with TBTB.
RESULTS:
A total of 92 children with TBTB were included, and the main symptoms were cough (90%) and fever (68%). In children under 1 year old, the incidence rates of dyspnea and wheezing were significantly higher than in other age groups (P<0.008). Chest CT findings included mediastinal or hilar lymph node enlargement (90%) and tracheobronchial stenosis or obstruction (61%). The lymphatic fistula type was the main type of TBTB observed bronchoscopically (77%). All children received interventional treatment, and the effective rate was 84%. During one year of follow-up, 34 children had residual airway obstruction or stenosis. The TBTB diagnostic time and the initiation of interventional treatment were significantly delayed in the group with residual airway obstruction or stenosis compared with the group without residual airway obstruction or stenosis (P<0.05). The multivariate logistic regression analysis showed that the TBTB diagnostic time was closely related to residual airway obstruction or stenosis in children (P<0.05). ROC curve analysis showed that at the cut-off value of 92 days of TBTB diagnostic time, the area under the curve for predicting residual airway obstruction or stenosis in children with TBTB was 0.707, with a sensitivity of 58.8% and a specificity of 75.9%.
CONCLUSIONS
The clinical manifestations of TBTB are nonspecific, and symptoms are more severe in children under 1 year old. TBTB should be suspected in children with tuberculosis and chest imaging indicating airway involvement. Delayed diagnosis of TBTB is associated with the development of residual airway obstruction or stenosis.
Infant
;
Child
;
Humans
;
Bronchoscopy/methods*
;
Constriction, Pathologic/complications*
;
Bronchial Diseases/therapy*
;
Retrospective Studies
;
Tuberculosis/diagnosis*
;
Airway Obstruction/therapy*
4.Excerpt from the 2022 American Association for the Study of Liver Diseases clinical practice guideline: management of primary sclerosing cholangitis and cholangiocarcinoma.
Chinese Journal of Hepatology 2023;31(1):35-41
What are the new contents of the guideline since 2010?A.Patients with primary and non-primary sclerosing cholangitis (PSC) are included in these guidelines for the diagnosis and management of cholangiocarcinoma.B.Define "related stricture" as any biliary or hepatic duct stricture accompanied by the signs or symptoms of obstructive cholestasis and/or bacterial cholangitis.C.Patients who have had an inconclusive report from MRI and cholangiopancreatography should be reexamined by high-quality MRI/cholangiopancreatography for diagnostic purposes. Endoscopic retrograde cholangiopancreatography should be avoided for the diagnosis of PSC.D. Patients with PSC and unknown inflammatory bowel disease (IBD) should undergo diagnostic colonoscopic histological sampling, with follow-up examination every five years until IBD is detected.E. PSC patients with IBD should begin colon cancer monitoring at 15 years of age.F. Individual incidence rates should be interpreted with caution when using the new clinical risk tool for PSC for risk stratification.G. All patients with PSC should be considered for clinical trials; however, if ursodeoxycholic acid (13-23 mg/kg/day) is well tolerated and after 12 months of treatment, alkaline phosphatase (γ- Glutamyltransferase in children) and/or symptoms are significantly improved, it can be considered to continue to be used.H. Endoscopic retrograde cholangiopancreatography with cholangiocytology brushing and fluorescence in situ hybridization analysis should be performed on all patients suspected of having hilar or distal cholangiocarcinoma.I.Patients with PSC and recurrent cholangitis are now included in the new unified network organ sharing policy for the end-stage liver disease model standard.J. Liver transplantation is recommended after neoadjuvant therapy for patients with unresectable hilar cholangiocarcinoma with diameter < 3 cm or combined with PSC and no intrahepatic (extrahepatic) metastases.
Child
;
Humans
;
Cholangitis, Sclerosing/diagnosis*
;
Constriction, Pathologic/complications*
;
In Situ Hybridization, Fluorescence
;
Cholangiocarcinoma/therapy*
;
Liver Diseases/complications*
;
Cholestasis
;
Inflammatory Bowel Diseases/therapy*
;
Bile Ducts, Intrahepatic/pathology*
;
Bile Duct Neoplasms/therapy*
5.Does the Surgical Timing and Decompression Alone or Fusion Surgery in Lumbar Stenosis Influence Outcome in Cauda Equina Syndrome?
Bharat Rajendraprasad DAVE ; Puspak SAMAL ; Romin SANGVI ; Devanand DEGULMADI ; Denish PATEL ; Ajay KRISHNAN
Asian Spine Journal 2019;13(2):198-209
STUDY DESIGN: A retrospective comparative analysis of 64 patients with cauda equina syndrome (CES), who underwent either decompression alone (NF) or fusion (F) surgery. PURPOSE: We compared the outcomes and timing effects. OVERVIEW OF LITERATURE: CES can cause loss of autonomic control of vesicular function and lower limb neurological deficits. Prompt diagnosis and emergency surgery markedly improve outcome. Although decompression only is a mainstream technique, there is guarded recovery of vesicular dysfunction. Decompression ventrally in a narrow window requires manipulation of neural tissue in an already jeopardised critical canal and may accentuate irreversible damages. In F surgery, the adequate exposure leads to a lower neural manipulation. METHODS: Until January 2008, we treated CES with decompression (laminectomy and/or discectomy). However, from that month forward, all our single-level CES patients have received a fusion operation. In this study, characteristic categorical variables and outcomes were analysed. RESULTS: In a retrospective analysis of 64 patients, NF (n=37) and F (n=27) who received treatment, we found that both groups improved significantly on follow-up in all objective parameters. Although, the comparison of clinical and functional outcome data between the two groups was statistically insignificant, the average value of objective outcome such as vesicular function, low back pain (LBP), and complications was better for patients in F group compared with NF group. However, the patient satisfaction for the F group was also lower, in view of their residual symptoms and disabilities. Contrary to common perceptions, we found that the timing of surgery does not influence the recovery rate for either approach. CONCLUSIONS: Although both the techniques appear to be equally effective, the fusion approach overall showed a definite edge over non-fusion, with respect to reduced incidence of iatrogenic dural tears, LBP, and overall outcome, even despite the lower patient satisfaction.
Cauda Equina
;
Constriction, Pathologic
;
Decompression
;
Diagnosis
;
Diskectomy
;
Emergencies
;
Follow-Up Studies
;
Humans
;
Incidence
;
Intervertebral Disc Displacement
;
Low Back Pain
;
Lower Extremity
;
Patient Satisfaction
;
Polyradiculopathy
;
Retrospective Studies
;
Spinal Fusion
;
Tears
6.Coronary Computed Tomography Angiography for the Diagnosis of Vasospastic Angina: Comparison with Invasive Coronary Angiography and Ergonovine Provocation Test
Jiesuck PARK ; Hyung Kwan KIM ; Eun Ah PARK ; Jun Bean PARK ; Seung Pyo LEE ; Whal LEE ; Yong Jin KIM ; Dae Won SOHN
Korean Journal of Radiology 2019;20(5):719-728
OBJECTIVE: To investigate the diagnostic validity of coronary computed tomography angiography (cCTA) in vasospastic angina (VA) and factors associated with discrepant results between invasive coronary angiography with the ergonovine provocation test (iCAG-EPT) and cCTA. MATERIALS AND METHODS: Of the 1397 patients diagnosed with VA from 2006 to 2016, 33 patients (75 lesions) with available cCTA data from within 6 months before iCAG-EPT were included. The severity of spasm (% diameter stenosis [%DS]) on iCAG-EPT and cCTA was assessed, and the difference in %DS (Δ%DS) was calculated. Δ%DS was compared after classifying the lesions according to pre-cCTA-administered sublingual nitroglycerin (SL-NG) or beta-blockers. The lesions were further categorized with %DS ≥ 50% on iCAG-EPT or cCTA defined as a significant spasm, and the diagnostic performance of cCTA on identifying significant spasm relative to iCAG-EPT was assessed. RESULTS: Compared to lesions without SL-NG treatment, those with SL-NG treatment showed a higher Δ%DS (39.2% vs. 22.1%, p = 0.002). However, there was no difference in Δ%DS with or without beta-blocker treatment (35.1% vs. 32.6%, p = 0.643). The significant difference in Δ%DS associated with SL-NG was more prominent in patients who were aged < 60 years, were male, had body mass index < 25 kg/m2, and had no history of hypertension, diabetes, or dyslipidemia. Based on iCAG-EPT as the reference, the per-lesion-based sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of cCTA for VA diagnosis were 7.5%, 94.0%, 60.0%, 47.1%, and 48.0%, respectively. CONCLUSION: For patients with clinically suspected VA, confirmation with iCAG-EPT needs to be considered without completely excluding the diagnosis of VA simply based on cCTA results, although further prospective studies are required for confirmation.
Angina Pectoris, Variant
;
Angiography
;
Body Mass Index
;
Constriction, Pathologic
;
Coronary Angiography
;
Diagnosis
;
Dyslipidemias
;
Ergonovine
;
Humans
;
Hypertension
;
Male
;
Nitroglycerin
;
Prospective Studies
;
Sensitivity and Specificity
;
Spasm
7.Comparison of the Diagnostic Performances of Same-session Endoscopic Ultrasound- and Endoscopic Retrograde Cholangiopancreatography-guided Tissue Sampling for Suspected Biliary Strictures at Different Primary Tumor Sites
Seong Jae YEO ; Chang Min CHO ; Min Kyu JUNG ; An Na SEO ; Han Ik BAE
The Korean Journal of Gastroenterology 2019;73(4):213-218
BACKGROUND/AIMS: Determining the cause of suspected biliary stricture is often challenging in clinical practice. We aimed to compare the diagnostic yields of endoscopic ultrasound-guided tissue sampling (EUS-TS) and endoscopic retrograde cholangiopancreatography-guided tissue sampling (ERCP-TS) in patients with suspected biliary stricture at different primary lesions. METHODS: We enrolled patients who underwent same-session EUS- and ERCP-TS for the evaluation of suspected biliary stricture. Forceps biopsy and/or brush cytology of intraductal lesions and fine-needle aspiration for solid mass lesions were performed during ERCP and EUS, respectively. RESULTS: One hundred and twenty-five patients treated at our institution between January 2011 and September 2016, were initially considered for the study. However, 32 patients were excluded due to loss of follow-up (n=8) and ERCP-TS on the pancreatic duct (n=20) or periampullary lesions (n=4). Of the 93 patients included, 86 had a malignant tumor including cholangiocarcinoma (n=39), pancreatic cancer (n=37), and other malignancies (n=10). Seven patients had benign lesions. EUS-TS had higher rate of overall diagnostic accuracy than ERCP-TS (82.8% vs. 60.2%, p=0.001), and this was especially true for patients with a pancreatic lesion (84.4% vs. 51.1%, p=0.003). CONCLUSIONS: EUS-TS was found to be superior to ERCP-TS for evaluating suspected biliary strictures, especially those caused by pancreatic lesions.
Biopsy
;
Biopsy, Fine-Needle
;
Cholangiocarcinoma
;
Cholangiopancreatography, Endoscopic Retrograde
;
Constriction, Pathologic
;
Diagnosis
;
Endosonography
;
Follow-Up Studies
;
Humans
;
Pancreatic Ducts
;
Pancreatic Neoplasms
;
Surgical Instruments
8.A Review of Making the Modern Diagnosis of Gastrointestinal Reflux Disease: the Lyon Consensus
The Korean Journal of Gastroenterology 2019;74(6):321-325
Gastroesophageal reflux disease (GERD) is diagnosed according to the medical history or in response to proton pump inhibitor therapy. However, the need for further testing is always appropriate. The decisive evidence for the current diagnosis of GERD is severe erosive esophagitis of Los Angeles grade C or D, long-segment Barrett's mucosa or peptic strictures seen on endoscopy or an acid exposure time >6% on ambulatory pH or pH impedance monitoring. If ambulatory reflux monitoring correlates between reflux and the symptoms, then the diagnosis and treatment are certain. If it is difficult to clearly diagnose this malady as seen upon endoscopy and ph/pH impedance monitoring, then this review recommends the biopsy findings, motor evaluation and novel impedance metrics. Novel impedance metrics include the baseline impedance and the post reflux swallow-induced peristaltic wave index. Therefore, making a future GERD diagnosis should focus on defining the patient's phenotype. The phenotype is determined by the level of reflux exposure, clearance efficacy, anatomy of the esophageal gastric junction, and the psychological state of the patient. The purpose of this review is to clarify the diagnostic guideline for GERD according to several test methods.
Biopsy
;
Consensus
;
Constriction, Pathologic
;
Diagnosis
;
Electric Impedance
;
Endoscopy
;
Esophageal pH Monitoring
;
Esophagitis
;
Gastroesophageal Reflux
;
Humans
;
Hydrogen-Ion Concentration
;
Manometry
;
Mucous Membrane
;
Phenotype
;
Proton Pumps
9.Cumulative Therapeutic Effect of High-Voltage Microcurrent Therapy in Patients with Herniated Lumbar Disc
Wang Hyeon YUN ; Jinyoung PARK ; Doyoung KIM ; Jung Hyun PARK
Clinical Pain 2019;18(2):65-69
OBJECTIVE: This study aims to evaluate the efficacy of high-voltage microcurrent therapy in patients with herniated lumbar disc (HLD) presenting radicular or back pain.METHOD: This is a retrospective study with 33 patients who are complaining pain with HLD findings on magnetic resonance image. Microcurrent therapy was applied to leg or paralumbar area. Treatment was conducted for seven minutes with 250~1000 uA intensity as high as the patients could tolerate via stimulating probe with roller type and the frequency was 60 Hz with a sine wave pulse. The visual analogue scale (VAS) was measured just before and after the treatment.RESULTS: The degree of pain reduction (ΔVAS) was 1.6 points after treatment on average. The ΔVAS according to the diagnosis, stenosis, dermatome area, medication, pain site and caudal epidural block was not statistically significant. However, the ΔVAS according to the number of treatments (< 3, ≥ 3 times) showed a statistically significant difference (p=0.04).CONCLUSION: High-voltage microcurrent therapy may help reduce lumbar or lumbosacral radiating pain after the procedure. The effect was better when microcurrent was applied three times or more. This result suggests that the microcurrent would have cumulative effect on reducing radicular or back pain in patients with HLD.
Back Pain
;
Constriction, Pathologic
;
Diagnosis
;
Electric Stimulation
;
Humans
;
Intervertebral Disc Displacement
;
Leg
;
Methods
;
Retrospective Studies
;
Visual Analog Scale
10.Predictive Value of Localized Stenosis of the Main Pancreatic Duct for Early Detection of Pancreatic Cancer
Yoshihide KANNO ; Shinsuke KOSHITA ; Takahisa OGAWA ; Hiroaki KUSUNOSE ; Kaori MASU ; Toshitaka SAKAI ; Keisuke YONAMINE ; Yujiro KAWAKAMI ; Yuki FUJII ; Kazuaki MIYAMOTO ; Toji MURABAYASHI ; Fumisato KOZAKAI ; Jun HORAGUCHI ; Yutaka NODA ; Masaya OIKAWA ; Takaho OKADA ; Kei ITO
Clinical Endoscopy 2019;52(6):588-597
BACKGROUND/AIMS: In this study, we aimed to evaluate the predictive value of localized stenosis of the main pancreatic duct (MPD) for early detection of pancreatic cancer.METHODS: Among 689 patients who underwent endoscopic retrograde pancreatography from January 2008 to September 2018, 19 patients with MPD findings were enrolled. These patients showed findings for indicating suspicious pancreatic cancer at an early stage (FiCE); FiCE was defined as a single, localized stenosis in the MPD without a detectable mass (using any other imaging methods) and without other pancreatic diseases, such as definite chronic pancreatitis, intraductal papillary mucinous neoplasm, and autoimmune pancreatitis. Final diagnoses were established by examining resected specimens or through follow-up examinations after an interval of >5 years.RESULTS: Among 19 patients with FiCE, 11 underwent surgical resection and 8 were evaluated after a >5-year observation period. The final diagnosis of the MPD stenosis was judged to be pancreatic cancer in 9 patients (47%), including 3 with intraepithelial cancer, and to be a non-neoplastic change in 10. The sensitivity, specificity, and accuracy of preoperative pancreatic juice cytology were 75%, 100%, and 88%, respectively.CONCLUSIONS: The predictive value of FiCE for pancreatic cancer prevalence was 47%. Histological confirmation with pancreatic juice cytology is necessary before surgical resection.
Cholangiopancreatography, Endoscopic Retrograde
;
Constriction, Pathologic
;
Diagnosis
;
Follow-Up Studies
;
Humans
;
Mucins
;
Pancreatic Diseases
;
Pancreatic Ducts
;
Pancreatic Juice
;
Pancreatic Neoplasms
;
Pancreatitis
;
Pancreatitis, Chronic
;
Prevalence
;
Sensitivity and Specificity

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