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ObjectiveTo summarize the echocardiographic features of sinus of Valsalva aneurysm （SVA）， analyze the causes of missed diagnosis， thus explore the diagnostic skills and improve the diagnostic accuracy for SVA. MethodsThe echocardiographic features and clinical data of 52 SVA patients who underwent surgery in the First Affiliated Hospital of Sun Yat-sen University from January 2014 to March 2022 were retrospectively reviewed. The patients were divided into 5 types according to modified Sakakibara classification system. ResultsThere were 32 male and 20 female patients with their age of 18~66 （36.1±11.6） years. Of the 52 aneurysms， 44 originated from the right coronary sinus （RCS）， 8 from noncoronary sinus （NCS） and none from left coronary sinus （LCS）. Among the 35 SVAs protruding into the right ventricle， including type I， type Ⅱ and type Ⅲv， 32 （91.4%） were associated with ventricular septal defect （VSD）. There were 2 （17.6%） associated with VSD among the 17 SVAs protruding into the right atrium or other sites of the heart， including type Ⅲa， type Ⅳ and type Ⅴ. SVA was frequently associated with aortic valve disease， 27 cases （51.9%） of which needed surgical valve replacement or valvoplasty. SVA was missed in 4 patients and VSD in 8， with the misdiagnosis rates of 7.7% and 23.5%， respectively. The most commonly missed VSD diagnosis was subarterial VSD with type I SVA. Of the 19 SVAs associated with infective endocarditis （IE）， 2 were missed， with the misdiagnosis rate of 10.5%. ConclusionThe ultrasound images of SVA are diverse and complex. SVA protruding into the right atrium is rarely associated with VSD， while SVA protruding into the right ventricle is frequently associated with VSD. SVA is also prone to be associated with aortic valve disease and IE， which makes the diagnosis more challenging. Therefore， during ultrasound examination， we must vigilantly and flexibly make use of the multiple scan slices so as to decrease the rate of missed diagnosis and improve the diagnostic accuracy for SVA.
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Objective:To investigate the significant effects of enhanced whole-body computed tomography (EWBCT) and non-enhanced whole-body computed tomography (N-EWBCT) on the missed diagnosis rate, renal function and prognosis of patients with severe trauma.Methods:Clinical data of trauma patients admitted from January 1, 2017 to December 31, 2020 were collected from the trauma database of the Trauma Center of the Second Affiliated Hospital of Soochow University. All patients included in this study were divided into the EWBCT group and N-EWBCT group according to whether they underwent enhanced whole-body computed tomography examination. The differences in baseline data, missed diagnosis rate, renal function and prognosis of the two groups of patients were compared.Results:A total of 459 patients were included in this study, including 184 patients in the EWBCT group and 275 patients in the N-EWBCT group. The missed diagnosis rate of the N-EWBCT group was significantly higher than that of the EWBCT group (18% vs. 5%, P < 0.01). The risk ratio of acute kidney injury (AKI) in the EWBCT group and N-EWBCT group was 9% and 7%, respectively, and there was no statistical difference between the two groups ( P >0.05). The mortality rate of patients in the N-EWBCT group was higher than that in the EWBCT group (23% vs. 12%, P=0.002). Conclusions:Compared with N-EWBCT, EWBCT does not significantly increase the risk of renal damage in patients with severe trauma. For patients with severe trauma, early EWBCT can reduce the missed diagnosis rate and improve the clinical prognosis.
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ABSTRACT Objective: to assess the role of autopsy in the diagnosis of missed injuries (MI) and definition of trauma quality program goals. Method: Retrospective analysis of autopsy reports and patient's charts. Injuries present in the autopsy, but not in the chart, were defined as "missed". MI were characterized using Goldman's criteria: Class I, if the diagnosis would have modified the management and outcome; Class II, if it would have modified the management, but not the outcome; Class III, if it would not have modified neither the management nor the outcome. We used Mann-Whitney's U and Pearson's chi square for statistical analysis, considering p<0.05 as significant. Results: We included 192 patients, with mean age of 56.8 years. Blunt trauma accounted for 181 cases, and 28.6% were due to falls from the same level. MI were diagnosed in 39 patients (20.3%). Using Goldman's criteria, MI were categorized as Class I in 3 (1.6%) and Class II in 11 (5.6%). MI were more often diagnosed in the thoracic segment (25 patients, 64.1% of the MI). The variables significantly associated (p<0.05) to MI were: time of hospitalization < 48 h, severe trauma mechanism, and not undergoing surgery or computed tomography. At autopsy, the values of ISS and NISS were higher in patients with MI. Conclusion: the review of the autopsy report allowed diagnosis of MIs, which did not influence outcome in their majority. Many opportunities of improvement in quality of care were identified.
RESUMO Objetivo: Avaliar a utilidade da autópsia no diagnóstico de lesões despercebidas (LD) e no estabelecimento de metas para programa de qualidade em trauma. Método: análise retrospectiva dos laudos de autópsia por trauma entre outubro/2017 e março/2019 provenientes do mesmo hospital. Lesões descritas na autópsia, mas não no prontuário médico, foram consideradas como despercebidas (LD) e classificadas pelos critérios de Goldman: Classe I: mudariam a conduta e alterariam o desfecho; Classe II: mudariam a conduta, mas não o desfecho; Classe III: não mudariam nem a conduta nem o desfecho. As variáveis coletadas foram comparadas entre o grupo com LD e os demais, através de método estatístico orientado por profissional na área. Consideramos p<0,05 como significativo. Resultados: analisamos 192 casos, com média etária de 56,8 anos. O trauma fechado foi o mecanismo em 181 casos, sendo 28,6% por quedas da própria altura. LD foram observadas em 39 casos (20,3%), sendo 3 (1,6%) classe I e 11 (5,6%) classe II. O tórax foi o segmento com maior número de LD (25 casos - 64,1% das LD). Foram associados à presença de LD (p<0,05): tempo de internação menor que 48 horas, mecanismo de trauma grave e a não realização de procedimento cirúrgico ou tomografia. Nos óbitos até 48h, valores de ISS e NISS nas autópsias foram maiores que os da internação. Conclusão: a revisão das autópsias permitiu identificação de LD, na sua maioria sem influência sobre conduta e prognóstico. Mesmo assim, várias oportunidades foram criadas para o programa de qualidade.
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Objective:To analyze the clinical characteristic of patellar sleeve fracture in children, so as to improve the understanding of pediatric patellar sleeve fracture and reduce the misdiagnosis rate.Methods:Clinical data of 18 children with patellar sleeve fractures admitted and followed up in Department of Pediatric Orthopedic Surgery, Affiliated Hospital of Zunyi Medical University from January 2013 to December 2019 were retrospectively analyzed, including 10 males and 8 females with the mean age of 11.4 years (8.0-14.0 years). There were 10 right patellar sleeve fracture cases, 7 left cases, and 1 case on both sides.Classified by the fracture cause, 10 cases were caused by falls, 3 cases of high jump, 2 cases of falling from height, 2 cases of car accidents, and 1 case of rope skipping, and all of cases were closed injuries.The mean post-injury visit to Affiliated Hospital of Zunyi Medical University was 3.5 days (4 hours -7 days). Twelve out of cases were transferred from other hospitals.All patients were treated with the open reduction and tension band wiring or patella tendon suturing through bone tunnel + patella circumferential wire banding and fixation.The curative effect of patella fracture was evaluated by the Bostman score.Results:Eighteen children with patellar sleeve fracture were diagnosed and treated promptly after admission, and regularly followed up after the operation for an average of 14 months (9-28 months). All cases achieved stage Ⅰ wound healing, and Kirschner wires and steel wires were removed according to the condition of fracture healing at 6 to 10 months postoperatively.According to the Bostman score for evaluating the patella fracture, 15 cases were excellent, 3 cases were good, and there were no missed or misdiagnosed cases.Conclusions:Patella sleeve avulsion fracture is a unique type of fracture in children.As cartilage is the main distal avulsion fracture lesion, it is difficult to be detected on X-ray scans, thus easily leading to missed diagnosis and misdiagnosis.Improving the understanding of this fracture type is the key to the early diagnosis and treatment.
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We reported a case of irreducible indirect inguinal hernia caused by sigmoid colon cancer entering the right groin.The patient complained about a right groin mass for more than 60 years with progressive enlargement for 3 years and pain for half a month.Abdominal CT examination at admission showed rectum and sigmoid colon hernia in the right inguinal area and thickening of sigmoid colon wall.Electronic colonoscopy and pathological diagnosis showed sigmoid colon cancer.Therefore,the result of preliminary diagnosis was irreducible indirect inguinal hernia caused by sigmoid colon cancer entering the right groin.We converted laparoscopic exploration to laparotomy followed by radical sigmoidectomy and employed end-to-end anastomosis of descending colon and rectum in combination with repair of right inguinal hernia.The patient recovered well after operation and was discharged.
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Humans , Colon, Sigmoid/surgery , Groin , Hernia, Inguinal/surgery , Laparoscopy , Sigmoid Neoplasms/surgeryABSTRACT
Isolated posterolateral corner (PLC) injury associated with a Schatzker type 2 fracture is a very rare combination of injuries. A male who was driving a motor vehicle was injured after a collision accident. The plain radiographs and computed tomography scans of the knee showed a Schatzker type 2 fracture of the tibial plateau, mostly in the anterolateral portion of tibial plateau, and an avulsion fragment on the fibular tip. Magnetic resonance imaging showed no injury to cruciate ligaments, medial collateral ligament, or any meniscal injury. We performed an open reduction operation and internal fixation for treating the fracture. Six months later, he complained of instability. At 11 months later after initial operation, we performed the second operation for stabilizing the PLC. We present here a rare case of an isolated PLC injury associated with a Schatzker type 2 fracture. We discuss the mechanism of injury and review similar cases.
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Humans , Male , Collateral Ligaments , Knee , Ligaments , Magnetic Resonance Imaging , Motor Vehicles , Tibial FracturesABSTRACT
Introduction: Intraspinal tumors were primary and secondarytumors that occurred in the spinal cord, nerve roots, meningesand the tissue of the wall of vertebral canal. Study aimedto analyze the misdiagnosis causes of intraspinal tumorsmisdiagnosed as lumbar intervertebral disc herniation, and toreduce the rate of clinical misdiagnosis.Material and Methods: Clinical data of 19 patients withintraspinal tumors misdiagnosed as lumbar intervertebral discherniation were retrospectively analyzed, and the respectivecharacteristics, essentials for diagnosis and differentialdiagnosis of the two different kinds of diseases weresummarized. The misdiagnosis causes were analyzed, and theprevention measures were put forward.Results: All the misdiagnosed patients’ data on MRI werecollected, and then they received operative treatment.Histological diagnosis results showed that there were 13cases of schwannomas, 3 cases of meningiomas, 2 casesof ependymomas, and 1 case of angiomyolipoma. In 1~36months’ follow-up, pain of all the patients was alleviated.Eighteen patients were healed, and only one patient still feltnumbness at left hip and left leg. No patient reoccurred ordied.Conclusion: Though there were similarities in early clinicalmanifestations between intraspinal tumors and lumbarintervertebral disc herniation, these two different kinds ofdiseases can be identified by collecting the case historydetailedly, performing physical examination carefully, andchoosing the imaging examination appropriately to avoidmisdiagnosis.
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Objective To investigate the risk factors and clinical manifestations of placental abruption, and to analyze the causes of missed diagnosis and misdiagnosis. Methods A retrospective analysis was conducted in 135584 women who delivered in Women′s Hospital, School of Medicine, Zhejiang University from January 2005 to December 2015. The diagnosis of placental abruption was made in 1212 cases. According to the consistency of prenatal and postnatal diagnosis, they were divided into 3 groups.(1) The diagnosis was consistent prenatally and postnatally in 715 cases(58.99%,715/1212) as the diagnosis group.(2)In 312 cases (25.74%,312/1212), the diagnosis was made after birth as the missed diagnosis group.(3)In 185 cases (15.26%,185/1212), the diagnosis was made prenatally but excluded after birth as the misdiagnosis group. The disease classification was made, and the risk factors, clinical manifestations, lab results, the time of termination and perinatal outcomes were recorded in the 3 groups. The reasons of missed diagnosis and misdiagnosis were analyzed. Results (1) In the 1212 cases, the diagnosis of placental abruption was confirmed in 1027 cases, with the incidence of 0.76%(1027/135584). The rate of missed diagnosis was 30.38%(312/1027), and the rate of misdiagnosis was 0.14%(185/134557). (2) There were significant differences in the degree of placental abruption among the 3 groups (P＜0.05). (3)Significant differences were found among the 3 groups regarding the ratio of hypertensive disorders, trauma, induced labor and advanced maternal age (all P＜0.05). (4) There were statistically significant differences among the 3 groups regarding the incidence of vaginal bleeding, persistent abdominal pain and uterine tenderness, bloody amniotic fluid, increased uterine tension and stillbirth (all P＜0.05). (5) There was no significant difference in the rate of abnormal fetal heart rate mornitoring among the 3 groups (P=0.22). The differences were statistically significant among the 3 groups when regarding the incidence of abnormal ultrasound finding and abnormal blood coagulation (P＜0.01), with the highest incidence of abnormal ultrasound in the diagnosis group (68.1%) and the highest incidence of abnormal coagulation in the misdiagnosis group (24.9%). (6)There was statistically significant difference among the 3 groups when comparing the ratio of termination of pregnancy within 24 hours (P=0.01). (7) There were statistically significant differences among the 3 groups when the ratios of postpartum hemorrhage, DIC, neonatal asphyxia and perinatal death were compared (all P＜0.05). The highest incidence of postpartum hemorrhage was in the diagnosis group (17.9%) and the lowest was in the misdiagnosis group (5.4%). The highest incidence of DIC was in the diagnosis group (3.9%) and the lowest was in the misdiagnosis group (0). The highest incidence of neonatal asphyxia was in the diagnosis group (30.6%) and the lowest was in the misdiagnosis group (7.6%). And for perinatal death, the highest incidence was in the diagnosis group (12.6%), the lowest was in the misdiagnosis group (2.2%). Conclusions Placental abruption could be misdiagnosed when depending on risk factors, such as trauma. And it could be missed diagnosis during the induction of labor. Uterine contraction, abnormal fetal heart rate mornitoring, abnormal ultrasound and abnormal coagulation function are important in the diagnosis of placental abruption.
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Objective:A patient with L3-5 lumbar disc herniations and right spinal recess stenosis at L4-5 level associated with type IIB lumbosacral nerve anomaly(LSNA) at right side according to Neidre and Macnab classification system missed preoperatively and initially misdiagnosed as type IIA intraoperatively was reported. The reasons leading to missed diagnosis preoperatively and misdiagnoses intraoperatively were analyzed. Methods: A 62-year-old female was admitted to our hospital for intermittent radiating pain and claudication to the right lower extremity for about 20 years, radiating pain to the left lower extremity for 2 weeks. Physical examination found the left L5 nerve and right L4 and L5 nerves were impinged. CT and MR scannings revealed L3-4 disc herniation at right side, L4-5 disc herniation at central and left side with severe lateral recess stenosis at right L4-5 level. Image examinations failed to find a nerve root anomaly preoperatively. Following failed conservative treatment, the patient accepted decompression operation initially at left side. Left L5 nerve compressed by the herniated L4-5 disc was found firstly, which was liberated by discectomy. When doing decompression exploration at right side, it was found that two lumbar nerve roots exited L4-5 intervertebral foramen while the upper one was compressed by the herniated L3-4 disc which was liberated by discectomy and the lower one was free of compression. With exposing the right side and partly unroofing of stenosed right L4-5 lateral recess, no typical L5 nerve root was found passing over the posterior surface of the herniated L4-5 disc except that there was a slim membrane-like structure covering it. The patient was initially considered as type IIA LSNA skeptical according to Neidre and Macnad Classification. But detailed observation of the axial CT and MR sequences at L4-5 lateral recess space and sagittal CT and MR sequences at L5S1 intervertebral foramen found there was nerve-like structure, which was further confirmed to be the L5 nerve root by total unroofing of stenosed lateral recess. The membrane-like structure covering the L4-5 disc was confirmed to be the flattened right L5 nerve root compressed by herniated L4-5 disc and stenosed lateral recess, which emerged from the dura’s ventral-lateral side just above the L4-5 disc, the L5 nerve was stripped and pushed medially from its lateral boundary meticulously, L4-5 discectomy was done at right side. Intervertebral cages were inserted after L3-4 and L4-5 disc spaces preparation, following pedicle screw system fusion. Results: No nerve damage occurred intraoperatively. The patient was free of radiating pain to the left lower extremity the day after operation, two weeks later the radiating pain to the right lower extremity alleviated after temporary aggravating. Conclusion: type II lumbar nerve anomalies were not easily to be detected by CT or MR images preoperatively, that closer distance between the conjoined nerves existing the L4-5 foramen and careless observation was responsible for missed diagnosis preoperatively. That the flattened right L5 nerve covering the L4-5 disc was difficult to be recognized intraoperatively for losing its typical contour and color was responsible for misdiagnosing type-IIB anomaly as IIA LSNA.. The operators should be alert and observed carefully in case of misdiagnosing.
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Objective To explore the ultrasonographic imaging characteristics of placenta increta and clinical data, and analyze the reasons for failure to make an accurate diagnosis. Methods By means of a retrospective analysis of 27 patients with placenta increta confirmed by operation and pathologic examination from January 2014 to May 2017 in the General Hospital of the People's Liberation Army (also Hospital 301 for short), the reasons for missed diagnosis and misdiagnosis are comprehensively summarized. Results The ultrasound examination in all the 27 cases (5 cases of first pregnancy, 17 cases of scar, 5 cases of maternal) illustrated the poorly-defined boundary between placenta and uterus mesometrium, the loss of retroplacental space, multiple lacunae echo areas, and the incomplete high-echo area of the serous membrane of placenta and bladder (involving the bladder); despite 3 normal placenta, the rest 24 were all diagnosed as placenta previa before operation, of which 20 belonged to central placenta previa and the other 4 belonged to marginal placenta previa. Twenty liveborn infants were delivered in the study, 13 of them went through abdominal hysterectomy after cesarean section surgery, 8 of them only received cesarean section surgery; 2 of them went through vaginal hysterectomy, 1 received cesarean section surgery after interventional embolization, 1 Uterine rupture in utero before got to the hospital, with the rest 2 received interventional embolization clamp scraping as a consequence of deadly induced labor or stillbirth. Postoperative placenta increta types demonstrated adhensive implantation, penetrating implantation, and implantation into muscular but not membrane layer in 3, 2, and 22 cases respectively. In terms of implanting position, only 3 patients (3/17) with cicatricial uterus did't undergo the implantation into the scar area mainly in the left wall, left anterior wall and posterior wall, as for patients with non-scar uterus, posterior wall implantation was the main mode presented in 6 cases (6/10). Fifteen of all the involved 27 cases were identified while 12 cases failed to be distinguished. The deep reasons of misdiagnosis were placental location (placenta adheres to the posterior wall), fetal head shelter, or small placental placement, gestational age, larger range of placenta implantation, emergency ultrasound only pay attention to the emergency situation and ignore the exist at the same time, experience of inspectors with placenta increta and so on. Conclusions Although there are some limitations in prenatal ultrasound diagnosis of placenta, it is still an important method for the diagnosis and prenatal dynamic monitoring of the condition before the placenta implantation.
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Objective ToinvestigateanimportedcaseofZikavirusdiseaseinWenzhouCity,toexplorethesourceof infection,to analyse the problems during surveillance and diagnosis,and to provide evidence for prevention and control of Zikavirusdisease.Methods Byfieldinvestigation,medicalrecordsofthepatientwerecollectedandaface-to-face interview was conducted;blood,urine and saliva samples within 48 h were collected for RNA detection;assess the risk of diseasespreadingbymosquitosurveillanceandtakecontrolmeasures.Results Theonsetofthediseasewasonthepatient's way home from aboard on February 21st,2016.Before then,She lived in Paramaribo,the capital of Suriname in South America,which is an epidemic area of Zika virus.The patient had exposure history,with red,diffuse rash on her head,face, neck and limbs,and once was diagnosed as allergic eruption because of no fever.The two blood samples were both tested negative yet We detected urine and saliva samples showed positive.With the evidence above,the patient was finally diagnosed as an imported Zika virus case.The spreading risk of this case was low due to the low temperature.Conclusion there may be cases without fever or with blood sample tested RNA negative.As the weather gets warmer,missed diagnosis should be aware of,or the risk of spreading through mosquitos would increase.Therefore,in order to further improvement should lie in mosquito control and disease surveillance.
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In recent years,the incidence of colorectal polyps and colorectal carcinoma showed a trend to increase gradually. Statistical analysis demonstrated that 80% of colorectal carcinoma were developed from colorectal adenoma,and adenomatous polyps accounted for 1 / 2-1 / 3 of colorectal polyps. Endoscopy is the golden standard for examining intestinal lesions,yet it is not completely correct and certain missed diagnosis has occurred. Factors causing missed diagnosis of colonoscopy include lesion factors and non-lesion factors. This article reviewed the advances in studies on missed diagnosis of intestinal polyps and related factors in colonoscopic examination.
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Objective To investigate the clinical value of ultrasonic diagnosis for neonatal annular pancreas,analyze the reasons of missed diagnosis and misdiagnosis,and improve diagnostic accuracy of ultrasonography for this disease.Methods Clinical data of 98 newborns with annular pancreas confirmed by gastrointestinal contrast and surgery were analyzed retrospectively.Preoperative ultrasonogram were compared with the result of gastrointestinal contrast and surgery.Ultrasound images failed to be correctly dignosed were further studied to summarize diagnostic points for this disease.Results Among the 98 cases, 75 were correctly diagnosed by ultrasound with a diagnostic accordance rate of 76.5%,1 8 were missed diagnosed and 5 were misdiagnosed with a total misdiagnosis rate of 23.5%.Ten cases associated with other congenital gastrointestinal tract anomalies were missed diagnosed due to ignoring scanning pancreas.Five cases were missed diagnosed due to obvious intestinal cavity flatulence.Three cases were missed diagnosed due to lack of awareness of the disease.Five cases were misdiagnosed for duodenal stenosis or duodenal atresia.Conclusions Ultrasound has important diagnostic value for neonatal annular pancreas,providing the dignostic evidences for clinical treatment.Thus it can be used as the preferred auxiliary examination of the disease.Since annular pancreas is often accompanied by other gastrointestinal malformations and can be interfered by abdominal gas,missed diagnosis and misdiagnosis occurred easily.To improve the accuracy of ultrasonic diagnosis,all causes of neonatal gastrointestinal tract obstructions should be considered during the examination.
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Objective To raise the awareness of acute kidney injury (AKI) and improve the level of diagnosis.Methods All the hospitalized adult patients in the Affiliated People's Hospital of Shanxi Medical University from January 2012 to July 2013 were screened.Those patients diagnosed as AKI were retrospectively analyzed in terms of incidence,the rate of missed diagnosis,etiology,distribution and prognosis of AKI.Results (1) The incidence of AKI in the patients was 0.67％ (381/56 835),the ratio of male to female was 1.91 ∶ 1,and the average age was (63.45±16.95) years.(2)There were 321 cases diagnosed as pre-renal AKI (84.25％),42 cases diagnosed as renal AKI (11.02％) and 18 cases diagnosed as post-renal AKI (4.72％).(3)There were 189 cases(49.61％) missed diagnosed among all the screened cases.The rates of missed diagnosis in neurosurgery,general surgery and cardiac surgery department was 62.96％,59.09％ and 50.00％,in cardiology,respiratory and neurology department was 50.00％,50.00％ and 45.45％ respectively.(4) Multivariate Logistic regression analysis showed that hypertension [odds ratio(OR)=1.631],renal replacement therapy(RRT)(OR=23.256) and oliguria history (OR=1.936) were independent risk factors of missed AKI diagnosis.Conclusion The missed diagnosis rate of AKI is high and has certain characteristics in different departments.Hypertension,RRT and oliguria history are independent impact factors of missed AKI diagnosis.
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Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a single gene disorder; the responsible gene belongs to the facilitative glucose transporters 2 (GLUT2) family gene or (SLC2A2) mapped to the q26.1-26.3 locus on chromosome 3, and encodes the GLUT protein 2. This protein is expressed in pancreatic ί-cells, hepatocytes, renal tubules, and intestinal mucosa. Several mutations in the GLUT2 gene have been reported in different ethnicities. Herein we report an Iranian girl with a missed diagnosis of osteogenesis imperfecta. She was referred with the history of frequent fractures, and severe motor delay and was suspected to osteogenesis imperfecta. Following the case we detected refractory rickets instead of OI, sever growth failure, proximal renal tubulopathy and RTA, and enlarged kidneys, progressive hepatomegaly, and GSD on liver biopsy. Glucose and galactose tolerance tests confirmed abnormal carbohydrate metabolism. Molecular analysis on GLUT2 gene revealed a homozygous novel mutation in exon 5; it was 15 nucleotide deletion and 7 nucleotide insertion and caused a frame shift mutation, produced a premature truncated protein (P.A229QFsX19). This mutation has not been reported before in the relevant literature.
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Child, Preschool , Delayed Diagnosis , Fanconi Syndrome/diagnosis , Fanconi Syndrome/epidemiology , Fanconi Syndrome/genetics , Female , Glucose Transporter Type 2/genetics , Humans , Iran , Mutation , Osteogenesis Imperfecta/diagnosis , Osteogenesis Imperfecta/epidemiology , Osteogenesis Imperfecta/geneticsABSTRACT
Objective To analyze the ultrasonic features of thyroid microcarcinoma (TMC) and the causes of misdiagnosis. Methods The ultrasonic features including shape, margin, echogenecity, microcalcification, vascularity and lymphadenopathy were analyzed retrospectively in 26 pathologically-proven TMC patients. Results In 26 cases, 11 cases were diagnosed correctly before operation (11/26, 42.31%), 12 cases were misdiagnosed (12/26, 46.15%) as adenoma or benign nodule, and 3 cases were missed diagnosed (3/26, 11.54%). Among the 23 cases detected on ultrasound, 21 cases were solid and hypoechoic (21/23, 91.30%);19 cases were ill-defined (19/23, 82.61%);12 cases were taller than wide in shape (12/23, 52.17%); 14 cases had microcalcification (14/23, 60.87%); 7 cases showed central or peripheral blood flow signals (7/23,30.43%) with arterial resistance index>0.70 in 3 lesions and<0.70 in 4 lesions. Conclusions Several ultrasonographic features are helpful in identiifcation of TMC, including hypo/iso-echogenecity, ill-deifned margin, taller-than-wide shape, microcalciifcation, arterial signals with high resistance index, and abnormal lymphadenopathy. Moreover, for cases with multiple lesions, to the potential co-existence of benign and malignant lesions should be considered.
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Objective To investigate the application of prenatal ultrasonograpy in diagnosis of fetal heart disease during the medium-term and terminal pregnancy,and to avoid misdiagnosis.Methods The prenatal ultrasonographic screening was conducted in 7020 pregnant women with medium-term and terminal pregnancy.All confirmed and suspicious cases of fetal heart disease were observed by echocardiography once 4 weeks until postnatal sixth month to 1 year while normal cases was traced at the intervals of 8 weeks.All the cases were confirmed by autopsy or surgery while part of them were confirmed by postnatal angiocardiography before surgery.The reasons of misdiagnosis were analyzed.Results In fifty-three cases of fetal cardiovascular abnormality,43 cases were found,2 cases were misdiagnosis while 8 cases were missed diagnosis.2 cases of misdiagnosis included 1 case of pulmonary valve stenosis and 1 case of tetralogy of Fallot.8 cases of miss diagnosis included 2 cases of inferior vena cava in ectopic drainage and 6 cases of ventricular septal defect (defect diameter ＜ 5 mm).The accuracy rate of diagnosis of fetal heart disease was 81.1 ％ by echocardiography.Conclusions Using high frequency probe,image zoom,enhancing the detection of vein-atrium connection and the structure of right ventricular outflow with pulmonary artery are important factors to avoid missed diagnosis and incomplete diagnosis.
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A retrospective case series was conducted to determine the clinical characteristics and bronchoscopy findings of children with foreign body aspiration in Paediatric Institute, Hospital Kuala Lumpur. Ten boys and two girls were included (range 2-177 months; median 26 months old). They commonly presented with cough (12 / 100%) and difficulty in breathing (9 / 75%). All patients had unilateral auscultatory findings and the commonest radiographic findings were unilateral hyperinflation (7 / 58.3%). The majority of foreign bodies removed was organic (8 / 66.6%) and more frequently found in the left bronchial tree (7 / 58.3%). Major complications were pneumonia (11 / 91.6%) and airway oedema (11 / 91.6%). Eight patients had delayed diagnosis due to parents unawareness (6 / 50%) and missed diagnosis (2 / 16.7%)
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@#ObjectiveTo explore the state of misdiagnosis, missed diagnosis and excesseive diagnosis related to cerebral palsy(CP).Methods389 cases were retrospectively analyzed who were misdiagnosed, missed or escessively diagnosed related to CP as the first diagnosis in the inpatient and outpatient department from July 1999 to March 2010.ResultsAmong 389 cases, 156 cases were missed or misdiagnosed as nutritional disease, and 118 cases of other diseases were misdiagnosed as CP, while 115 cases who were normal children was excessively diagnosed as CP. The false diagnosis had relativity with children's age: doctors are more prone to make misdiagonsis when the children's age are smaller, while 293 cases were misdiagnosed before 12 months old (75.3%); 102 cases (65.4%) were misdiagnosed or missed as other diseases before September, 2004, while 87 cases (75.7%) were excessively diagnosed as CP after September, 2004. Frequency of misdiagnosis as CP reduced from 2004, and the proportion dropped from 55.9% to 44.1%.ConclusionIt is very important to master the diagnostic standard of CP. Both sides of the question are important, one side is to make early diagnosis and early treatment in order to achieve the best effect of rehabilitation, and the other side is to prevent misdiagnosis and excessive diagnosis which woud delay illness, or waste medical resources, increase the financial and psychological burden.
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OBJECTIVES: The misdiagnosis of delirium may result in a delay of correct diagnosis and appropriate treatment of the delirium. Additionally, aggravation of physical illnesses can occur. The objective of this study was to investigate patient characteristics in cases of misdiagnosed delirium upon psychiatric consultation in a university hospital. METHODS: Subjects included patients with delirium among all who we had consulted over a 12 week span. Psychiatric diagnosis was made by two well-trained psychiatrists by means of the DSM-IV-TR. Cognitive function, level of delirium, and physical function were evaluated by the Korean version of Mini Mental Status Examination (MMSE-K), the Delirium Rating Scale-Revised-98 (DRS-R-98), the Clinical Global Impression-Severity (CGI-S), the Eastern Cooperative Oncology Group Performance Status (ECOG-PS), and the Global Assessment of Functioning Scale (GAF). In addition, we collected socio-demographic information, date of admission and consultation, present causes of consultation, and speculated psychiatric diagnoses made by referring physicians. RESULTS: Among 45 subjects with delirium, only 28 patients (62%) were diagnosed with delirium by referring physicians at the time of consultation. The remaining 17 patients (38%) had been diagnosed with other illnesses. The group of misdiagnosed patients tended to have a longer duration of formal education than those that had been correctly diagnosed. CONCLUSION: Early diagnosis and intervention of delirium can minimize subsequent problems related to delayed diagnosis. Therefore, it is vital to identify the factors related to misdiagnoses by referring physicians. This study showed that a longer duration of formal education is a contributing factor for the misdiagnosis of delirium. Longer education may cover up the typical symptoms of delirium. This can keep referring physicians from making a correct diagnosis. This study was a pilot study investigating diagnostic accuracy of delirium by referring physicians. Additional, well-controlled studies are warranted.