Medical data base system with an ability of automated diagnosis.

We carried out an experiment on a medical information system in which a clinical data base is combined organically with computer programs for automated diagnosis. In this system, the parameters for automated diagnosis are devised to be renewed as the contents of the data base (patient's information) increase. This system can be regarded as a data base possessing a kind of diagnosing ability which grows up with time. We have named this system "Intelligent Data Base". The algorithm for computer diagnosis used in this study is based on maximum likelihood method, and each likelihood is weighted with a prior probability of each disease. The discrimination efficiency of this method is logically equal to that of the Bayes rule. First 27 cases were learnt by the system and correct diagnosis was obtained in 78% of the cases. When cases for learning increased to 82, the percentage of correct diagnosis was improved to 95%.     

Diagnosis of Tuberculosis in a General Hospital

In a survey of 71 new cases of tuberculosis diagnosed in a general hospital the average interval between admission and diagnosis of tuberculosis (the diagnostic interval) ranged between 10 days for intrathoracic tuberculosis and 20 days for genitourinary tuberculosis. The average diagnostic interval was 10·9 days when tuberculosis was included in the initial differential diagnosis, and 22·8 days when other diagnoses were made. Undue delay in diagnosis occurred in 17 patients (24%). In eight this was due to failure to include tuberculosis in the initial differential diagnosis. Earlier diagnosis might have saved three of the five patients who died.In 21 patients (30%) a history of predisposing factors or associated illness was obtained. Ten of these had suffered from previous tuberculosis.The vital factor in diagnosis of tuberculosis in general hospital patients is consideration of this condition in the diagnosis of any unexplained illness, especially where a history of previous tuberculosis or a recognized predisposing factor is obtained.     

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using ocular, cardiac, neurological and electrophysiological tests and the molecular diagnosis was done by PCR, SSCP and sequencing of the CLCN1 gene. The proband and the other affected individuals exhibited proximal and distal muscle weakness but no hypertrophy or muscular pain was found. The myotatic reflexes were lessened and sensibility was normal. Electrical and clinical myotonia was found only in the sufferers. Slit lamp and electrocardiogram tests were normal. Two affected probands presented diminution of the sensitive conduction velocities and prolonged sensory distal latencies. The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P) was found in the family and absent in 200 unaffected chromosomes. No latent myotonia was found in this family; therefore the ability to cause this subclinical sign might be intrinsic to each mutation. Implications of the structure-function-genotype relationship for this and other mutations are discussed. Adequate clinical diagnosis of a neuromuscular disorder would allow focusing the molecular studies toward the confirmation of the initial diagnosis, leading to a proper clinical management, genetic counseling and improving in the quality of life of the patients and relatives.     

Diagnosis of cervical thymoma by fine needle aspiration biopsy with flow cytometry. A case report

BACKGROUND: Cervical thymoma is a rare entity. To our knowledge, this is the 20th reported case of cervical thymoma and the fourth case of fine needle aspiration biopsy (FNAB) of this entity. To our knowledge, this is the only case in which cervical thymoma was a diagnostic consideration at the time of the FNAB diagnosis. The diagnosis was rendered because, unlike in previous cases, flow cytometric immunophenotyping was performed. CASE: A 46-year-old, white female presented with what was clinically thought to be a left thyroid nodule. The patient underwent FNAB at an outside institution, and the diagnosis of "possible mixed lymphoma" was made by morphology alone. The patient was referred to our institution for repeat FNAB. Based upon the cytologic findings (cells with lymphoid morphology), flow cytometry was performed, and a diagnosis of cervical thymoma (versus ectopic thymic tissue) was based upon flow cytometry findings combined with morphology. CONCLUSION: When FNAB of a cervical mass, particularly one clinically thought to be a thyroid nodule, shows lymphoid cells without thyroid follicular cells, immunophenotyping may be extremely helpful in arriving at the correct diagnosis.     

Reliability of telepathology for frozen section service.

One of the most promising applications of telepathology (pathology at a distance by electronic transmission of images in pathology) is frozen section diagnosis, especially because by means of this tool operations requiring an intraoperative histopathological diagnosis are feasible at hospitals without a pathologist on-site. For the introduction of this diagnostic tool into pathologist's daily practice the evidence of its diagnostic accuracy comparable to that of the conventional frozen section diagnosis is crucial. For this purpose the literature on the diagnostic accuracy of telepathological frozen section diagnosis was reviewed. In a metaanalysis these studies and reports, in which a total of more than 1290 cases had been examined, showed a slightly lower overall diagnostic accuracy (of the telepathological frozen section diagnosis) of about 0.91 than the conventional frozen section diagnosis with an average accuracy of about 0.98 found in an analysis of several studies (on frozen section diagnosis of different organs). This difference is at least predominantly caused by a higher rate of deferred and false negative frozen section diagnoses in the telepathological method, while the specificity of both methods, each more than 0.99 was not significantly different. In conclusion, the introduction of a telepathological frozen section diagnosis for hospitals without an acceptable access to a pathologist is justifiable already at the current state of the technological development especially when considering the advantages (time saving, reduction in costs) compared to the alternative of surgical interventions without access to an intraoperative diagnosis.     

Second prenatal diagnosis in a familial form of male pseudohermaphroditism caused by 17 keto-reductase deficiency: prediction confirmed by a normal third male infant

In the first child of this family, the diagnosis of male pseudo-hermaphroditism due to 17 keto-reductase deficiency was established at two months of age after HCG test. During the second pregnancy, amniocentesis was performed for fetal karyotype and steroid determination in the amniotic fluid: an affected male fetus was suspected and this prediction was confirmed at birth. For the third pregnancy, a prenatal diagnosis was requested again and made, according to the same procedure: a normal male fetus was predicted and this diagnosis was confirmed at birth; this study demonstrates the feasibility and reliability of a prenatal diagnosis for 17 keto-reductase deficiency.     

尿液分析及胸部X 线筛查重度感染或者脓毒性休克感染源的回顾性分析

目的:评估重症监护室的重症感染或者脓毒性休克患者尿常规检查和胸部X线检查的准确性。方法:回顾性分析我院进入重症监护室的确诊为重症感染或者脓毒性休克的患者,收集所有入组患者的个人情况,进入监护室以后的尿液检查结果、胸部X线检查结果,以及体液细菌学培养的结果,分析上述数据与诊断泌尿系感染或者肺部感染之间关系。结果:我们回顾了400例患者,其中70例患者确诊为重症感染或者脓毒性休克,其中13例患者确诊为泌尿系感染(尿常规,白细胞>10/高倍镜视野),敏感性和特异性分别为81%(95%CI 0.67-0.92)和65%(95%CI 0.51-0.75);36例患者确诊为肺部感染,胸部X线检查诊断肺部感染的的敏感性和特异性分别为57%(95%CI 0.45-0.69)和92%(95%CI 0.82-0.93)。结论:对于脓毒血症或者脓毒性休克的患者,胸部X线检查敏感性较低,这可能与肺部X线检查干扰因素较多,并且肺部感染发生到出现影像学变化有一定的时间间隔;而尿液分析敏感性较高,但是也可能由于尿液中上皮细胞的存在而干扰诊断。     

¿Neurologist's contribution to the diagnosis of sine materia respiratory insufficiency: case report¿

ABSTRACT: Right-to-left shunt (RLS) can be the reason of marked hypoxemia, this diagnosis of respiratory insufficiency is usually difficult to make by Respiratory Physicians as it develops in absence of an intrinsic lung disease. We report a case of RLS in a patient with a hepatopulmonary syndrome caused by chronic autoimmune cholangitis which was suspected clinically by physical examination and by standard CT imaging and MIP reconstruction of the pulmonary vascular bed. Repeated previous transthoracic echocardiography (TTE) studies didn't reveal the shunts. The final diagnosis was performed by a minimally invasive doppler transcranial examination with the use of agitated saline as contrast solution. Transcranial Colour-Coded Duplex Sonography (TCCS) with saline contrast medium injection is described to have an higher sensitivity compared with TTE and comparable with transesophageal echocardiography (TEE) in RLS diagnosis. The collaboration of Neurologists to this diagnosis of respiratory insufficiency is really important, as the examination is simple, well tolerated in comparison with the discomfort associated with transesophageal echocardiography, and of minimal invasivity in comparison with angiography which is the ultimate diagnostic procedure in this clinical scenario. TCCS with saline contrast medium injection, should be performed for the diagnosis of chronic hypoxemia for which causes are not detected with routine clinical examinations, in order to confirm RLS.     

Impact du délai diagnostique sur la survie du cancer du testicule

Objectives

Testicular cancer is the leading cancer of young adults and its incidence is increasing in almost all industrialized countries. The survival rate after testicular cancer is 95%, all stages combined, but a group of patients with poor prognosis still fails to respond to treatment. The time to diagnosis is defined as the time in months between perception of the first symptoms of testicular cancer by the patient and the diagnosis of the disease by the doctor. The objective of this study is to determine whether the time to diagnosis has a prognostic value, particularly whether it is correlated with the stage of the disease and survival.

Material and Methods

The time to diagnosis was studied in 542 patients with a diagnosis of testicular cancer between 1983 and 2002 in the Midi-Pyrenées region. Information concerning the disease and treatments contained in medical files was collected on a summary document. The time to diagnosis was correlated with prognostic parameters, including stage and survival.

Results

The mean time to diagnosis was 3.7±5.1 months and was longer for seminomas (4.9±6.1 months) than for non-seminomatous germ cell tumours (NSGCT) (2.8 ±4.0 months). The time to diagnosis was correlated with the stage of the disease and the 5-year survival on the overall population and in the NSGCT group, but not in the seminoma group.

Conclusions

Early diagnosis has a prognostic value (correlation with stage of the disease and 5-year survival rate). Testicular cancer information campaigns should therefore be envisaged.     

Congenital Dislocation of the Hip

Congenital dislocation or subluxation of the hip (congenital acetabular dysplasia) is a complete or partial displacement of the femoral head out of the acetabulum. The physical signs essential for diagnosis are age related. In newborns the tests for instability are the most sensitive. After the neonatal period, and until the age of walking, tightness of the adductor muscles is the most reliable sign. Early diagnosis is vital for successful treatment of this partially genetically determined condition. Various therapeutic measures, ranging from abduction splinting to open reduction and osteotomy, may be required. Following diagnosis in the first month of life, the average treatment time in one recent series was only 2.3 months from initiation of therapy to attainment of a normal hip. When the diagnosis was not made until 3 to 6 months of age, ten months of treatment was required to achieve the same outcome. When the diagnosis is not made, or the treatment is not begun until after the age of 6, a normal hip will probably not develop in any patient.     

The clinical history and costs associated with delayed diagnosis of bipolar disorder

The purpose of this reported study was to determine healthcare utilization and costs associated with delayed diagnosis of bipolar disorder. With use of automated data from a large integrated health system in the Midwest, all patients with newly diagnosed bipolar disorder recorded in any inpatient or outpatient encounter from January 1, 2000 to August 31, 2002 were identified. The date of initial diagnosis was the index date. For each patient in the bipolar cohort, 5 comparison patients were randomly selected from the general population of health system members and matched with the bipolar patients by sex, race, and age (-/+ 5 years). Data on healthcare utilization (inpatient, outpatient, emergency department, pharmacy) were collected with a focus on mental health, from January 1, 1990, through 1 year after the index date. The cohort is 62% female and 64% White. Median time between initial mental health diagnosis and bipolar diagnosis was 21 months, with 33% of subjects receiving a bipolar diagnosis within 6 months of their initial mental health diagnosis; however, for 31% of the remaining bipolar subjects, the time of their initial mental health presentation to bipolar diagnosis was 4 years or more. The number and duration of treatment with antidepressants increased as time to bipolar diagnosis increased. Patients with bipolar disorder had at least twice the number of interactions with the healthcare system before the index date than the non-bipolar comparison group. Mean monthly costs before and after bipolar diagnosis were not strikingly different for patients with bipolar disorder, but costs after bipolar diagnosis increased with increasing time to bipolar diagnosis. Bipolar disorder is a costly illness for which the impact on the healthcare system may vary depending on how quickly it is diagnosed. Delays in diagnosis appear related to additional costs after diagnosis.     

Use of Kampo Diagnosis in Randomized Controlled Trials of Kampo Products in Japan: A Systematic Review

Background

The Committee for Evidence-based Medicine (EBM) of the Japan Society for Oriental Medicine started compiling Evidence Reports of Kampo Treatment (EKAT) in 2007. EKAT is a compilation of structured abstracts of randomized controlled trials (RCTs), along with comments by a third party reviewer. As of 31 December, 2012, there were 378 RCTs of Kampo medicines in Japan. The primary research question of this study is “How frequently is Kampo diagnosis used in RCTs of Kampo medicines?” The secondary research question is “When is Kampo diagnosis used in RCTs?”

Materials and Methods

The structured abstract (SA) of each RCT article was reviewed to examine how Kampo diagnosis was used in RCTs, especially how Kampo diagnosis was used in the randomization process.

Results

Kampo diagnosis was used before randomization in 27 RCTs (7.1%), after randomization in 31 RCTs (8.2%), and not used in 320 RCTs (84.7%). Before randomization, Kampo diagnosis was used as a criterion for inclusion in 10 RCTs, criterion for exclusion in 9 RCTs, and criteria for both inclusion and exclusion in 2 RCTs. Kampo formulas were determined according to Kampo diagnosis in 7 RCTs. After randomization, subgroup analyses according to Kampo diagnosis were done in 27 RCTs, and grade of disease severity at Kampo diagnosis was used for analysis as an endpoint in 4 RCTs.

Conclusions

Kampo diagnosis was used before randomization only in approximately 15% of RCTs, and the number of RCT articles using Kampo diagnosis after randomization was almost the same as that before randomization. Further studies to determine the good RCTs conforming to CONSORT requirements and good systematic reviews conforming to PRISMA requirements are needed to clarify the significance of Kampo diagnosis.     

Reappearance of catatonia. A case report

We describe a patient who was ill for more than 15 years. She was treated predominantly as a neurological case because of multiple motor signs. The diagnosis of catatonia was considered at the time when she was hospitalized in a psychiatric hospital after a suicidal attempt. The "therapeutic blindness", which was obviously present during 15 years of her illness, is discussed: the ICD--10 is perhaps misleading regarding this diagnosis while it associates it too tightly only to schizophrenia.     

Differentiation of Fanconi anemia and aplastic anemia using mitomycin C test in Tunisia

Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test. Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50 ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. Somatic mosaicism was suspected in an 11-year-old patient with a FA phenotype. Twenty-six siblings of FA patients were also evaluated and five of them (19.23%) were diagnosed as FA. From this study, a standard protocol for diagnosis of FA was developed. It is routinely used as a diagnostic test of FA in Tunisia.     

Potential use of radiation diagnosis of esophageal achalasia

The prime objective of the paper is to attempt to reevaluate the potentialities of current radiation diagnosis of esophageal achalasia. Moreover, its main idea is to assess the procedure of a traditional X-ray section of radiation study. In the authors' opinion, the main motivation of writing this paper was the emergence of new recent potentialities of radiation diagnosis, including its traditional X-ray section in gastroenterological pathology, as well as a considerable body of information on esophageal achalasia (144 cases). The tasks to be solved in the paper include the differential diagnosis of esophageal achalasia and cardioesophageal cancer, as well as the basic capacities of radiation diagnosis to help clinicians in characterizing the changes caused by medical and surgical treatments for this disease. The authors consider that the obtained volume of necessary information on this abnormality rather frequently encountered in esophagogastroenterological pathology can be increased by applying the current possibilities of radiation study and mainly its traditional X-ray section.     

Change In Cycle Length During Narrow Complex Tachycardia: What Is The Mechanism?

Major spontaneous variation in cycle length during supraventricular tachycardia is quite an uncommon phenomenon, which sometimes can mislead a correct diagnosis. We describe a patient who developed spontaneous variation in cycle length during electrophysiologic study in whom the coronary sinus cannulation was extremely difficult. In this situation, careful inspection of the mechanisms associated with this variation and classic pacing maneuvers are important to make a correct diagnosis of the supraventricular tachycardia.     

Direct Blood Dry LAMP: A Rapid,Stable, and Easy Diagnostic Tool for Human African Trypanosomiasis

Loop-mediated isothermal amplification (LAMP) is a rapid and sensitive tool used for the diagnosis of a variety of infectious diseases. One of the advantages of this method over the polymerase chain reaction is that DNA amplification occurs at a constant temperature, usually between 60–65°C; therefore, expensive devices are unnecessary for this step. However, LAMP still requires complicated sample preparation steps and a well-equipped laboratory to produce reliable and reproducible results, which limits its use in resource-poor laboratories in most developing countries. In this study, we made several substantial modifications to the technique to carry out on-site diagnosis of Human African Trypanosomiasis (HAT) in remote areas using LAMP. The first essential improvement was that LAMP reagents were dried and stabilized in a single tube by incorporating trehalose as a cryoprotectant to prolong shelf life at ambient temperature. The second technical improvement was achieved by simplifying the sample preparation step so that DNA or RNA could be amplified directly from detergent-lysed blood samples. With these modifications, diagnosis of HAT in local clinics or villages in endemic areas becomes a reality, which could greatly impact on the application of diagnosis not only for HAT but also for other tropical diseases.     

Infantile cartilaginous hamartoma of the rib. A case report

BACKGROUND: Infantile cartilaginous hamartoma of the rib is a rare condition occurring in newborn infants, with an incidence of 1 in 3,000 (0.03%) among primary bone tumor cases. Reports of this condition so far have presented the clinical, radiologic and histopathologic features. To the best of our knowledge, reports of the cytopathologic features have not been documented. In the present case report, clinical, radiologic and cytopathologic features and differential diagnosis are enumerated. CASE: A 1-month-old, male infant presented with a chest wall mass with a clinical diagnosis of osteochondroma. On fine needle aspiration cytology, a diagnosis of infantile cartilaginous hamartoma of the rib was suggested; it was supplemented by the clinical history and radiologic findings. CONCLUSION: Although rare, this condition ought to be kept in mind while dealing with infantile chest wall masses to avoid an erroneous diagnosis of malignancy, owing to its ominous cytopathologic features.     

Diagnosis of the rare solid and papillary epithelial neoplasm of the pancreas by fine needle aspiration cytology. Light and electron microscopic study of a case

A case of the rare solid and cystic papillary tumor of the pancreas in a young woman is described. The diagnosis was made by fine needle aspiration cytology, with electron microscopic examination of the needle washings. The preoperative cytologic diagnosis enabled appropriate surgical treatment to be planned and carried out without undue delay. It is important to distinguish this rare tumor from other pancreatic tumors with similar cytohistologic features since, if diagnosed correctly and managed surgically, this neoplasm is associated with a good prognosis.     

Interpreting microbiopsies in cervical smears. A cytohistologic approach

OBJECTIVE: To assess interobserver variation in the diagnosis of thick tissue specimens (microbiopsies) in cytology smears and histologic sections taken from them, to evaluate the applicability of MIB-1 in histologic sections from microbiopsies and to evaluate whether processing microbiopsies in inconclusive smears has additional diagnostic value. STUDY DESIGN: Cytologic smears were selected in which there were diagnostic disagreements between pathologists and cytologists and microbiopsies were present. Interobserver variation among three pathologists and three cytologists in the diagnosis of these microbiopsies was investigated. The smears were processed for histologic sections, and interobserver variation between pathologist diagnoses were analyzed. An additional histologic slide stained for MIB-1 was used for consensus diagnosis. The consensus diagnosis was compared with available follow-up and its sensitivity and specificity determined. The value of applying the microbiopsy technique in slides diagnosed as inadequate or atypical squamous cells of undetermined significance (ASCUS) was analysed. RESULTS: From a series of 62,334 cervical smears, 49 with microbiopsies were selected. It was possible to derive histologic slides from 38 cases. Interobserver variability in the diagnosis of microbiopsies and histologic sections from them was moderate--kappa = .44 (SE = .06) and kappa = .44 (SE = .09), respectively. In the consensus meeting for all cases, a conclusive diagnosis was reached. The Pearson correlation coefficient between the consensus diagnosis and MIB-1 staining was r = .62. The sensitivity of the consensus diagnosis for the follow-up diagnosis was 71% and the specificity 60%. Diagnosis on approximately 50% of slides diagnosed as inadequate or ASCUS could be made. CONCLUSION: The histotechnical workup of microbiopsies is not difficult; however, their diagnosis can be a problem. Adequate diagnostic criteria are not available. Aided by MIB-1 staining, histologic sections from microbiopsies can be diagnosed, and the diagnoses correlated with follow-up in most cases. Processing of microbiopsies in smears with an inconclusive cytologic diagnosis or a diagnosis of ASCUS allowed correct diagnosis in 50% of cases in this study.