Clinical classification and gene mutation of Chinese probands with Charcot-Marie-Tooth disease Analysis of 57 cases

Charcot-Marie-Tooth （CMT） disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes （PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2） in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTXl; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis.

Clinical classification of chronic prostatitis:a preliminary investigation

Aim: To propose a practical clinical classification for the chronic prostatitis (CP). Methods: The clinical fea-tures and the findings in the expressed prostatic secretion (EPS) in 804 cases of CP patients were retrospectively ana-lyzed. Results: Four types of CP were identified based on the clinical manifestations and the amounts of whiteblood cells (WBC) and lecithin in EPS. They were the latent type (85 cases; 10.6%), the common type (423 cases;52.6%), the persisting type (104 cases; 12.9%), and the active type (192 cases, 23.9%). The therapeutic efficacyfor these 4 subtypes were 40.4%, 76.8%, 30.8% and 37%, respectively; a statistical difference was noticed be-tween the common type and the persisting type (P < 0.01 ). Conclusion: The method of classification proposed bythe authors may help clinicians in the diagnosis and predicting the prognosis of CP. (Asian J Androl 2000 Dec; 2:311-313)

Clinical Classification and Treatment Strategy of Hamate Hook Fracture

To explore the clinical classification of hamate hook fracture and the treatment strategy for different type of fractures,12 patients who suffered from hamate hook fractures were followed up retrospectively.According to the fracture sites and the prognosis,we classified the hamate hook fractures into 3 types.Type Ⅰ referred to an avulsion fracture at the tip of hamate hook,type Ⅱ was a fracture in the middle part of hamate hook,and type Ⅲ represented a fracture at the base of hamate hook.By the classification,in our series,only 1 fell into type Ⅰ,7 type Ⅱ,and 4 type Ⅲ.The results were evaluated with respect to the functional recovery,recovery time and the association among the clinical classification,pre-operative complications and treatment results.The average follow-up time of this group was 8.4±3.9 months.Two cases were found to have fracture non-union and both of them were type Ⅱ fractures.Six patients had complications before operation.Five cases were type Ⅱ fractures and 1 case type Ⅲ fracture.All the patients were satisfied with the results at the time of the last follow-up.Their pain scale and grip strength improved significantly after treatment.All the pre-operative complications were relieved.The recovery time of hamate hook excision was significantly shorter than that of the other two treatments.The incidences of both pre-operative complications and non-union in type Ⅱ fractures were higher than those in type Ⅰ and type Ⅲ fractures.It was concluded that,generally,the treatment effects with hamate hook fracture are quite good.The complication incidence and prognosis of the fracture are closely related to the clinical classification.Early intervention is critical for type Ⅱ fractures.

Evaluation of the Sensitivity and Specificity of the New Clinical Diagnostic and Classification Criteria for Kashin-Beck Disease,an Endemic Osteoarthritis,in China

This study aimed to evaluate the sensitivity and specificity of the new clinical diagnostic and classification criteria for Kashin-Beck disease （KBD） using six clinical markers： flexion of the distal part of fingers, deformed fingers, enlarged finger joints, shortened fingers, squat down, and dwarfism. One-third of the total population in Linyou County was sampled by stratified random sampling.

Reliability and validity of sub-axial injury classification in clinical application

Objective To evaluate the clinical reliability and validity of the sub-axial injury classification (SLIC) system proposed by the Spine Trauma Study Group (STSG) in 2007. Methods Thirty cases of cervical injury were randomly chosen

Barcelona Clinic Liver Cancer Classification and Treatment of Hepatocellular Carcinoma in a Côte d’Ivoire University Hospital

Context/Objectives: Hepatocellular carcinoma occurs mainly and increasingly in developing countries, where the prognosis is particularly poor. The Barcelona Clinic Liver Cancer classification is used to guide the treatment of hepatocellular carcinoma. The aim of this retrospective study was to describe the Barcelona Clinic Liver Cancer classification and the treatment of hepatocellular carcinoma in a University Hospital in Côte d’Ivoire. Methods: Patients with hepatocellular carcinoma hospitalized in the hepato-gastroenterology unit of the University Hospital of Yopougon from 01 January 2012 to 30 June 2017 were included. The diagnosis of hepatocellular carcinoma was based on the presence of hepatic nodules on the abdominal ultrasound scan, typical images with the helical scanner associated or not with an increase of the α-fetoprotein higher than 200 ng/ml or with histology. Demographic, clinical, biological and radiological data were determined at the time of diagnosis. Patients were classified according to the Barcelona Clinic Liver Cancer classification. Their treatment was specified. Results: There were 258 patients whose median age was 48.1 years. Viral hepatitis B virus was the primary cause of hepatocellular carcinoma in 64.7% of cases. The severity of the underlying cirrhosis was Child-Pugh A in 12.1%, B in 63.6% and C in 24.3% of cases. The median size of the tumor was 63 mm. The α-fetoprotein level was higher than 200 mg/ml in 56.03% of cases. The Eastern Cooperative Oncology Group (ECOG)/World Health Organization (WHO) system was ≥2 in 82.9%. The Barcelona Clinic Liver Cancer classification was A in 1.3%, B in 0%, C in 55.2% and D in 43.5% of patients. There was no transplantation or hepatic resection. Very few patients (1.9%) received radio-frequency curative therapy. The treatment was predominantly symptomatic in 97.8% of patients. During hospitalization 43.7% of patients died. Conclusion: Hepatocellular carcinoma occurs on a liver with severe cirrhosis at a late stage. This does not allow cure treatment and explains a high mortality rate during hospitalization. Hepatitis B virus is the main risk factor and immunization at birth will reduce the incidence of this cancer in Africa.

Treatment Strategy for Post-Hepatectomy Recurrent Hepatocellular Carcinoma: A Single Center Experience with 556 Consecutive Cases in China

Background: Treatment strategy for recurrent hepatocellular carcinoma (HCC) remains scantily defined. This study was aimed to establish a treatment strategy to manage post-hepatectomy recurrent HCC and report the clinical outcomes. Methods: From January 2006 to December 2016, 556 consecutive patients who developed post-hepatectomy HCC recurrence were enrolled in the study. The patients were clinically stratified and treated according to a strategy established by a multi-disciplinary team. Clinical data and survival times were collected prospectively and analyzed retrospectively. Results: According to the strategy, there were 298 (53.6%), 214 (38.5%), 32 (5.7%) and 12 (2.2%) patients stratified into Early, Intermediate, Advanced and Terminal stages, respectively. In Early stage patients, 164 (55.0%) received curative treatment in the form of repeat resection or local ablation, 134 (45.0%) received transarterial chemoembolization (TACE), and the 1-, 3-, and 5-year overall survival (OS) rates were 82.0%, 46.8% and 37.3%, respectively. In Intermediate stage patients, 207 (96.7%) received TACE, 7 (3.3%) radiotherapy, and the 1-, 3-, and 5-year OS rates were 73.2%, 31.8% and 15.9%, respectively. In Advanced stage patients, 22 patients received sorafenib, 10 radiotherapy, and the mean survival time (MST) was 25.1 ± 3.1 months. All the 12 patients in Terminal stage received the best supportive treatment, and the MST was 6.5 ± 3.4 months. Clinical stages and duration of disease-free interval were independent factors relating to overall survival. Conclusions: A treatment strategy derived from the Barcelona Clinic Liver Cancer staging system, with some modifications, has been successfully established to manage post-hepatectomy recurrent HCC, and the clinical outcomes were commendable.

View Point on Severe Fever with Thrombocytopenia Syndrome

Severe fever with thrombocytopenia syndrome (SFTS), a new disease of zoonotic natural foci has been increasing in recent years. In this review, the disease of human granulocytic anaplasmosis infection due to tick-borne and new Bunia virus infection, have similar clinical symptoms. Total of 11 articles were retrieved. The emergence, etiology, nomenclature and pathogenic mechanisms, clinical diagnosis and genotyping of SFTS were summarized, and the current situation of treatment was also evaluated. In conclusion, early detection, identiifcation and treatment are the key points to SFTS, but how to reduce the mortality of critically ill patients is still the focus in the future.

Does the ratio of the carpal tunnel inlet and outlet cross-sectional areas in the median nerve reflect carpal tunnel syndrome severity?

Although ultrasound measurements have been used in previous studies on carpal tunnel syndrome to visualize injury to the median nerve, whether such ultrasound data can indicate the severity of carpal tunnel syndrome remains controversial. The cross-sectional areas of the median nerve at the tunnel inlet and outlet can show swelling and compression of the nerve at the carpal. We hypothesized that the ratio of the cross-sectional areas of the median nerve at the carpal tunnel inlet to outlet accurately reflects the severity of carpal tunnel syndrome. To test this, high-resolution ultrasound with a linear array transducer at 5–17 MHz was used to assess 77 patients with carpal tunnel syndrome. The results showed that the cut-off point for the inlet-to-outlet ratio was 1.14. Significant differences in the inlet-to-outlet ratio were found among patients with mild, moderate, and severe carpal tunnel syndrome. The cut-off point in the ratio of cross-sectional areas of the median nerve was 1.29 between mild and more severe（moderate and severe） carpal tunnel syndrome patients with 64.7% sensitivity and 72.7% specificity. The cut-off point in the ratio of cross-sectional areas of the median nerve was 1.52 between the moderate and severe carpal tunnel syndrome patients with 80.0% sensitivity and 64.7% specificity. These results suggest that the inlet-to-outlet ratio reflected the severity of carpal tunnel syndrome.

Current opinions on the mechanism,classification,imaging diagnosis and treatment of post-traumatic osteomyelitis

Post-traumatic osteomyelitis(PTO)is a worldwide problem in the field of orthopaedic trauma.So far,there is no ideal treatment or consensus-based gold standard for its management.This paper reviews the representative literature focusing on PTO,mainly from the following four aspects:(1)the pathophysiological mechanism of PTO and the interaction mechanism between bacteria and the body,including fracture stress,different components of internal fixation devices,immune response,occurrence and development mechanisms of inflammation in PTO,as well as the occurrence and development mechanisms of PTO in skeletal system;(2)clinical classification,mainly the etiological classification,histological classification,anatomical classification and the newly proposed new classifications(a brief analysis of their scope and limitations);(3)imaging diagnosis,including non-invasive examination and invasive examination(this paper discusses their advantages and disadvantages respectively,and briefly compares the sensitivity and effectiveness of the current examinations);and(4)strategies,including antibiotic administration,surgical choices and other treatment programs.Based on the above-mentioned four aspects,we try to put forward some noteworthy sections,in order to make the existing opinions more specific.

Risk factors for postoperative recurrence of cardiac myxoma and the clinical managements： a report of 5 cases in one center and review of literature

Background Recurrence or metastasis of myxomas is not rare risk factors for postoperative cardiac myxoma recurrence and to classification. and can lead to malignancy. We aimed to analyze the summarize its clinical characteristics, treatments and Methods The clinical data of 5 patients with recurrent cardiac myxoma were retrospectively analyzed and our clinical experience was summarized. Moreover, the relevant literatures were reviewed. Results All the five cases of primary myxomas were derived from atypical positions. One patient had early distant metastasis, one had family history, and two suffered malignant recurrence. The recurrence interval was （2.30＋2.16） years and the recurrent tumors were all found in different chambers from those of the corresponding primary tumors. Re-operation was performed after recurrence. One patient died of heart failure after malignant recurrence, and the other 4 cases had satisfactory therapeutic outcomes after re-operations. Our experience advocated a clinical classification of ＂typical＂ and ＂atypical＂ cardiac myxoma, the typical myxomas referred to the tumors locating at the left atria, with single pedicle, rooted at or around the fossa ovalis, involving no genetic causes, and the atypical myxomas included the familial tumors, tumors stemming from multiple chambers, rooted in abnormal positions of the left atrium, with evident genetic mutation, or with malignant tendency.

Issues in the Mining of Heart Failure Datasets

This paper investigates the characteristics of a clinical dataset using a combination of feature selection and classification methods to handle missing values and understand the underlying statistical characteristics of a typical clinical dataset. Typically, when a large clinical dataset is presented, it consists of challenges such as missing values, high dimensionality, and unbalanced classes. These pose an inherent problem when implementing feature selection and classification algorithms. With most clinical datasets, an initial exploration of the dataset is carried out, and those attributes with more than a certain percentage of missing values are eliminated from the dataset. Later, with the help of missing value imputation, feature selection and classification algorithms, prognostic and diagnostic models are developed. This paper has two main conclusions: 1) Despite the nature of clinical datasets, and their large size, methods for missing value imputation do not affect the final performance. What is crucial is that the dataset is an accurate representation of the clinical problem and those methods of imputing missing values are not critical for developing classifiers and prognostic/diagnostic models. 2) Supervised learning has proven to be more suitable for mining clinical data than unsupervised methods. It is also shown that non-parametric classifiers such as decision trees give better results when compared to parametric classifiers such as radial basis function networks(RBFNs).