Neonate-onset ornithine transcarbamylase deficiency / 中国当代儿科杂志

The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 μmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.

Heart failure caused by congenital hepatic hemangioma complicated with arteriovenous fistula in a neonate / 中国当代儿科杂志

The three-day-old female infant was admitted to the hospital due to respiratory distress after birth. She was born premature at 36+2 weeks gestational age. Prenatal ultrasound suggested abnormal development of the fetal liver vessels, and she had dyspnea that required respiratory support after birth. Chest X-ray indicated an enlarged cardiac silhouette, and cardiac ultrasound revealed enlargement of the right atrium and right ventricle. Diagnosis of hepatic hemangioma with arteriovenous fistula was confirmed through liver ultrasound and abdominal enhanced CT. At 19 days old, she underwent ligation of the hepatic artery under general anesthesia, which led to an improvement in cardiac function and she was subsequently discharged. Genetic testing revealed a mutation in the ACVRL1 gene, which was inherited from the mother. The article primarily introduces a case of neonatal heart failure caused by hepatic hemangioma with arteriovenous fistula, and multi-disciplinary diagnosis and treatment of this disease.

Congenital pulmonary alveolar proteinosis in a neonate / 中国当代儿科杂志

The male patient was referred to the hospital at 44 days old due to dyspnea after birth and inability to wean off oxygen. His brother died three days after birth due to respiratory failure. The main symptoms observed were respiratory failure, dyspnea, and hypoxemia. A chest CT scan revealed characteristic reduced opacity in both lungs with a "crazy-paving" appearance. The bronchoalveolar lavage fluid (BALF) showed periodic acid-Schiff positive proteinaceous deposits. Genetic testing indicated a compound heterozygous mutation in the ABCA3 gene. The diagnosis for the infant was congenital pulmonary alveolar proteinosis (PAP). Congenital PAP is a significant cause of challenging-to-treat respiratory failure in full-term infants. Therefore, congenital PAP should be considered in infants experiencing persistently difficult-to-treat dyspnea shortly after birth. Early utilization of chest CT scans, BALF pathological examination, and genetic testing may aid in early diagnosis.

Advances in animal models of traumatic brain injury / 医学研究生学报

Traumatic brain injury (TBI) is a serious global public health and socio-economic problem with high disability and mortality. At present, the following TBI animal models are widely used in experimental　research - weight-drop injury models, fluid percussion injury models, controlled cortical injury models, penetrating ballistic-like brain injury models, and blast injury models. Although the TBI animal models replicate most of the histopathological and functional outcomes observed clinically, the existing animal models can not fully replicate human TBI. Researchers need to consider carefully when using experimental TBI models to ensure that the most appropriate models are selected to solve the research problems. In this paper, the principles and characteristics of these five models are briefly reviewed.

Prognostic Analysis of 102 Patients with Synchronous Colorectal Cancer and Liver Metastases Treated with Simultaneous Resection / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The liver is the most common site for colorectal cancer (CRC) metastases. Their removal is a critical and challenging aspect of CRC treatment. We investigated the prognosis and risk factors of patients with CRC and liver metastases (CRCLM) who underwent simultaneous resections for both lesions.</p><p><b>METHODS</b>From January 2009 to August 2016, 102 patients with CRCLM received simultaneous resections of CRCLM at our hospital. We retrospectively analyzed their clinical data and analyzed their outcomes. Overall survival (OS) and disease-free survival (DFS) were examined by Kaplan-Meier and log-rank methods.</p><p><b>RESULTS</b>Median follow-up time was 22.7 months; no perioperative death or serious complications were observed. Median OS was 55.5 months; postoperative OS rates were 1-year: 93.8%, 3-year: 60.7%, and 5-year: 46.4%. Median DFS was 9.0 months; postoperative DFS rates were 1-year: 43.1%, 3-year: 23.0%, and 5-year 21.1%. Independent risk factors found in multivariate analysis included carcinoembryonic antigen ≥100 ng/ml, no adjuvant chemotherapy, tumor thrombus in liver metastases, and bilobar liver metastases for OS; age ≥60 years, no adjuvant chemotherapy, multiple metastases, and largest diameter ≥3 cm for DFS.</p><p><b>CONCLUSIONS</b>Simultaneous surgical resection is a safe and effective treatment for patients with synchronous CRCLM. The main prognostic factors are pathological characteristics of liver metastases and whether standard adjuvant chemotherapy is performed.</p>

Research advances in neonatal nasal intermittent positive pressure ventilation / 中国当代儿科杂志

Nasal intermittent positive pressure ventilation (NIPPV) can augment nasal continuous positive airway pressure (nCPAP) by delivering intermittent positive pressure ventilation in a noninvasive way and can provide a new option for neonatal noninvasive respiratory support. NIPPV has an advantage over nCPAP in primary and post-extubation respiratory support. Moreover, it can reduce severe apnea of prematurity. Synchronized NIPPV has promising application prospects. This review article summarizes the advances in the application of NIPPV in neonatal respiratory support to promote the understanding and standardization of this technique.

Mortality and Morbidity of Extremely Low Birth Weight Infants in the Mainland of China: A Multi-center Study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>With the progress of perinatal medicine and neonatal technology, more and more extremely low birth weight (ELBW) survived all over the world. This study was designed to investigate the short-term outcomes of ELBW infants during their Neonatal Intensive Care Unit (NICU) stay in the mainland of China.</p><p><b>METHODS</b>All infants admitted to 26 NICUs with a birth weight (BW) < l000 g were included between January l, 2011 and December 31, 2011. All the data were collected retrospectively from clinical records by a prospectively designed questionnaire. The data collected from each NICU transmitted to the main institution where the results were aggregated and analyzed. Categorical variables were performed with Pearson Chi-square test. Binary Logistic regression analysis was used to detect risk factors.</p><p><b>RESULTS</b>A total of 258 ELBW infants were admitted to 26 NICUs, of whom the mean gestational age (GA) was 28.1 ± 2.2 weeks, and the mean BW was 868 ± 97 g. The overall survival rate at discharge was 50.0%. Despite aggressive treatment 60 infants (23.3%) died and another 69 infants (26.7%) died after medical care withdrawal. Furthermore, the survival rate was significantly higher in coastal areas than inland areas (53.6% vs. 35.3%, P = 0.019). BW < 750 g and GA < 28 weeks were the largest risk factors, and being small for gestational age was a protective factor related to mortality. Respiratory distress syndrome was the most common complication. The incidence of patent ductus arteriosus, intraventricular hemorrhage, periventricular leukomalacia, bronchopulmonary dysplasia, retinopathy of prematurity was 26.2%, 33.7%, 6.7%, 48.1%, and 41.4%, respectively. Ventilator associated pneumonia was the most common hospital acquired infection during hospitalization.</p><p><b>CONCLUSIONS</b>Our study was the first survey that revealed the present status of ELBW infants in the mainland of China. The mortality and morbidity of ELBW infants remained high as compared to other developed countries.</p>

Evaluation of eight different clinical staging systems associated with overall survival of chinese patients with hepatocellular carcinoma / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Hepatocellular carcinoma (HCC) is a common cancer in China, an area of high hepatitis B virus (HBV) infection. Although several staging systems are available, there is no consensus on the best classification to use because multiple factors, such as etiology, clinical treatment and populations could affect the survival of HCC patients.</p><p><b>METHODS</b>This study analyzed 743 HBV-related Chinese HCC patients who received surgery first and evaluated the predictive values of eight different commonly used staging systems in the clinic.</p><p><b>RESULTS</b>The overall 1-, 3-, 5-year survival rates and a median survival were 91.5%, 70.3%, 55.3% and 72 months respectively. Barcelona Clinic Liver Cancer (BCLC) staging systems had the best stratification ability and showed the lowest Akaike information criterion (AIC) values (2896.577), followed by tumor-node-metastasis 7 th (TNM 7 th ) (AIC = 2899.980), TNM 6 th (AIC = 2902.17), Japan integrated staging score (AIC = 2918.085), Tokyo (AIC = 2938.822), Cancer of the Liver Italian Program score (AIC = 2941.950), Chinese University Prognostic Index grade (AIC = 2962.027), and Okuda (AIC = 2979.389).</p><p><b>CONCLUSIONS</b>BCLC staging system is a better staging model for HBV infection patients with HCC in Chinese population among the eight currently used staging systems. These identifications afford a large group of Chinese HCC patients with HBV infection and could be helpful to design a new staging system for a certain population.</p>

Clinicopathological and prognostic analysis of primary clear cell carcinoma of the liver / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the clinicopathological features and prognostic factors of primary clear cell carcinoma of the liver (PCCCL).</p><p><b>METHODS</b>The clinical data of 41 PCCCL patients who underwent hepatic resection for PCCCL from October 1998 to June 2012 in our department were retrospectively analyzed. There were 31 male and 10 female patients. The median age was 56 years (range, 25 to 80 years), and the diagnosis was confirmed by postoperative pathological examination. The data of 106 well or moderately differentiated non-clear cell hepatocellular carcinoma (HCC) patients and 86 poorly differentiated non-clear cell HCC patients who underwent hepatic resection in the same period in our hospital in the same period were compared. The χ(2) test or Fischer's exact test, as appropriate, was used to compare group frequencies. Survival analysis was estimated by Kaplan-Meier method. Cox proportional hazards model was used in multivariate analysis.</p><p><b>RESULTS</b>The proportion of fibrous capsule formation in the PCCCL tumors (46%, 19/41) was significantly higher than that of the other two groups (P < 0.05), whereas the PCCCL group had a lower rate of intravascular tumor embolus (2/41) and vascular invasion (1/41) (P < 0.05). The median survival time of PCCCL group was 65 months, the 1-, 3-, 5-year survival rates for PCCCL patients were 90.2%, 67.4% and 42.0%, significantly better than that of poor differentiated NCCHCC group's (82.9%, 33.3%, 7.2%, P < 0.01). However, there were no statistic significant differences between PCCCL group and well or moderately differentiated NCCHCC group (84.7%, 55.7%, 34.4%, P > 0.05). Tumor capsule formation was an independent favorable prognostic factor. In contrast, preoperative serum α-fetoprotein (AFP) level and hepatitis B virus infection were independent unfavorable prognostic factors for PCCCL.</p><p><b>CONCLUSIONS</b>PCCCL is a rare, low degree malignant pathological subtype of HCC. Surgical resection may achieve favorable prognosis and even long-term survival.</p>

Prognosis of hepatocellular carcinoma: a study of 832 cases / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the prognostic factors of hepatocellular carcinoma.</p><p><b>METHODS</b>The purpose of this study was to retrospectively analyze the surgical outcomes of hepatocellular carcinoma (HCC) in 832 patients who underwent hepatic resection between February 2002 and June 2010 in the Cancer Hospital of Chinese Academy of Medical Sciences. Post-resection prognostic factors were assessed using a univariate Kaplan-Meier analysis and a multivariate Cox proportional hazards model.</p><p><b>RESULTS</b>The overall 1-, 3- and 5-year survival rates were 92.0%, 70.2% and 53.6%, respectively. The disease free survival rates (DFS) were 90.2%, 61.5% and 40.5%, respectively. The univariate analysis showed that a better prognosis for overall survival (OS) was associated with asymptomatic presentation, small tumor, single lesion, high-grade histological differentiation, no vascular tumor embolus, negative serum alpha-fetoprotein (AFP), negative serum alkaline phosphatase (ALP), Child-Pugh class A, no ascites, no/mild cirrhosis, new surgical techniques, no blood transfusion, no regional lymph node metastasis, no major vascular invasion, and no extra-hepatic invasion. The multivariate analysis showed that asymptomatic presentation, small tumor, single lesion, no tumor embolus, negative serum alpha-fetoprotein (AFP), no regional lymph node metastasis, no major vascular invasion, no extra-hepatic invasion, no/mild cirrhosis, and surgical techniques are independent factors for a longer overall survival.</p><p><b>CONCLUSIONS</b>The prognosis of HCC after resection is influenced by a number of factors. Therefore, regularly screening and early diagnosis, applying surgical techniques to minimize the liver injury, and preventing the aggravation of cirrhosis are important measures to improve the overall survival of HCC patients. For those patients with high risk factors of recurrence, routine follow-up is one of the best methods to be recommended.</p>

Treatment of chronic extremity lymphedema with manual lymph drainage / 中华整形外科杂志

<p><b>OBJECTIVE</b>To evaluate the effect of manual lymph drainage on chronic extremity lymphedema.</p><p><b>METHODS</b>Fifty patients with chronic lymphedema of extremity were treated with manual lymph drainage (MLD) complex decongestion therapy. Among them, 29 had primary lymphedema, 21 had secondary lymphedema. 42 had lymphedema of lower extremity and 8 had lymphedema of upper limb. The result of treatment was evaluated with measurement of circumference of extremities and edema fluid in tissue with Multiple-frequency bioelectrical impedance analysis.</p><p><b>RESULTS</b>After 1-2 treatment courses, all 50 patients showed significant decrease of circumference of lymphomatous limbs (P < 0.05) and remarkable reduction of accumulated edema fluid in tissue (P < 0. 05). There was highly correlation between the decrease of limb circumference and edema fluid in tissue (r(s) = 0.774, P < 0.01).</p><p><b>CONCLUSIONS</b>MLD complex decongestion therapy is effective for the treatment of chronic lymphedema of extremity.</p>

Diagnosis of peripheral lymph circulation disorders with contrast MR lymphangiography / 中华整形外科杂志

<p><b>OBJECTIVE</b>To evaluate anatomical and functional images of contrast MR lymphangiography in the diagnosis of limb lymphatic circulation disorders.</p><p><b>METHODS</b>30 patients with limb lymphedema were enrolled in the study. There were 27 patients of primary lymphedema and 3 of secondary lymphedema. Contrast enhanced lymphangiography was performed with 3.0 T MR Unit after intracutaneous injection of gadobenate dimeglumine into the interdigital webs of the dorsal foot and hand. The kinetics of enhanced lymph flow within the lymphatics were calculated using the formula: Speed (cm) = total length of visualized lymph vessel (cm)/ inspection time (minutes) and by comparing dynamic nodal enhancement and time-signal intensity curves between edematous and contralateral limbs. Morphological abnormalities of the lymphatic system were also evaluated.</p><p><b>RESULTS</b>Following injection of the contrast agent enhanced lymphatic channels were consistently visualized in all clinical lymphedematous limbs and five contralateral limbs of unilateral lymphedema cases. The speed of enhanced flow within the lymphatics of lymphedematous limbs ranged from 0.30 to 1.48 cm/min. The contrast enhancement in inguinal nodes of edematous limbs was significantly lower than that of contralateral limbs (P < 0.01). Dynamic measurement of contrast enhancement showed a remarkable lowering of peak time (P < 0.01) and peak enhancement (P < 0.01) and a delay in outflow in inguinal nodes of affected limbs compared with that of control limbs. Post-contrast MR imaging also depicted varied distribution patterns of lymphatics and abnormal lymph flow pathways within lymph nodes in the limbs with lymphatic circulation disorders.</p><p><b>CONCLUSIONS</b>Contrast MR lymphangiography with gadobenate dimeglumine was able to visualize the precise anatomy of lymphatic vessels and lymph nodes in lymphedematous limbs. It also provided comprehensive information about the functional status of lymph flow transportation in lymphatics and lymph nodes.</p>

Multivariate analysis of risk factors of lymph node metastasis in early gastric cancer / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the clinicopathological factors affecting lymph node metastasis in early gastric cancer(EGC).</p><p><b>METHODS</b>Clinicopathological data of 369 patients with EGC from Jan. 1999 to Jun. 2008 were analyzed retrospectively. Multivariate analysis was performed to find the risk factors affecting lymph node metastasis.</p><p><b>RESULTS</b>The age, gender, tumor size, invasion depth, histological classification and vascular cancer thrombosis were associated with lymph node metastasis. Multivariate analysis showed that tumor size and depth of invasion were main independent risk factors.</p><p><b>CONCLUSIONS</b>The main independent risk factors affecting lymph node metastasis in EGC are tumor size and invasion depth. The gender, vascular cancer thrombosis, tumor size, invasion depth and histological classification should be considered to establish the surgical program.</p>

Construction of the male rat model of adenine-induced infertility with kidney-yang deficiency / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the time- and dose-related reproductive toxicity of adenine in male Wistar rats.</p><p><b>METHODS</b>Adenine was dissolved with Arabian sol at the proportion of 1:10 and different adenine solutions were prepared at the concentration of 0, 50, 100, 150 and 200 mg/ml. Seventy-five male Wistar rats were equally assigned to 5 dose groups and received intragastric administration of the adenine solution at 1 ml/(100 g x d). Five from each group were sacrificed every 10, 20 and 30 days, their sperm quality and body and genital weight measured, pathological examinations conducted, sex hormone changes detected by radioimmunoassay, and analyses made on the time- and dose-related reproductive toxicity of adenine.</p><p><b>RESULTS</b>With the increase in the time and dose of adenine administration, signs of kidney-yang deficiency gradually appeared in all the dose groups on the third day; and statistically significant changes were observed in sperm concentration and motility, and serum testosterone and luteinizing hormone levels in the 100 mg/(100 g x d) group (P < 0.05 or P < 0.01) by the 10th day. The same changes were observed in 50 mg/(100 g x d) group by the 20th day. Different degrees of pathological changes were noted in a time and dose-dependent manner in all the dose groups, suggestive of a progressive reduction of the reproductive function with the increase of time and dose of adenine administration.</p><p><b>CONCLUSION</b>For the construction of the male rat model of adenine-induced infertility with kidney-yang deficiency, the best dose is 50-100 mg/(100 g x d) and the best administration time is 10-20 consecutive days intragastrically.</p>

Refined mapping of the loss of heterozygosity on chromosome 1q21 in gastric carcinoma / 南方医科大学学报

<p><b>OBJECTIVE</b>To obtain allelic loss mapping and define the minimal lost region on chromosome 1q21 in gastric carcinomas, and explore role of 1q21 loss of heterozygosity (LOH) in the development and progression of gastric carcinogenesis.</p><p><b>METHODS</b>Using 7 high-density microsatellite markers and PCR method, lq21 LOH was analyzed in 30 paired specimens of fresh gastric carcinoma, and the relation between 1q21 LOH and the clinicopathological features of the malignancy was tested.</p><p><b>RESULTS</b>The LOH frequency on chromosome 1q21 from these gastric carcinoma tissues reached 60% (18/30). The LOH frequencies of the microsatellite markers D1S514, D1S2696, D1S498, D1S305, D1S2624, D1S2635 and D1S2702 were 13.3%, 10%, 20%, 23.3%, 33.3%, 40% and 23.3%, respectively. The minimal lost region on 1q21 LOH in the gastric carcinoma tissues was located in the region between D1S2624 and D1S2707, in the vicinity of D1S2635. No significant relations of 1q21 LOH to the patients' age, gender, location of the primary foci, clinical staging, or the tumor differentiation were noted (P>0.05), but 1q21 LOH was correlated to lymph node metastases of the malignancy (P<0.05).</p><p><b>CONCLUSION</b>Higher frequency of 1q21 LOH occurs in gastric carcinoma cells, suggesting the presence of potential tumor suppressor genes closely associated with gastric carcinogenesis near the region of D1S2635.</p>

Experimental study of gene therapy with human vascular endothelial growth factor-c in lymphedema / 中华整形外科杂志

<p><b>OBJECTIVE</b>To study the efficacy of gene therapy with human vascular endothelial growth factor-c (VEGF-C) on obstructive lymphedema.</p><p><b>METHODS</b>Two animal models of lymphedema were created: one in the right hind limb of adult New Zealand white rabbits and the other in SD mouse tail. Each model was randomly divided into two groups to receive intradermal injection of either VEGF-C gene (experimental group), or saline(control group). In rabbit model, the volume change of affected limb was measured. In mouse model, biopsy was performed after 3 weeks treatment to detect the expression of VEGF-C mRNA and proteins. The lymphagenesis was evaluated by immunohistochemical examination with lymphatic endothelium hyaluronan receptor antibody.</p><p><b>RESULTS</b>The volume of the affect rabbit limb decreased by (24.40 +/- 1.08) ml in experimental group, compared with (5.80 +/- 1.92) ml in control group (P = 0.0001). The expression of VEGF-C mRNA and protein increased markedly in experiment group, but not in controls. More lymphatic vessels with large caliber were seen in experiment group (P = 0.0004).</p><p><b>CONCLUSIONS</b>VEGF-C gene therapy may alleviate or treat lymphedema by inducing lyphmangiogenesis.</p>

Treatment of primary lower limb lymphedema with ultrasonic assisted liposuction / 中华整形外科杂志

<p><b>OBJECTIVE</b>To observe treatment effects of primary lower limb lymphedema using ultrasonic assisted liposuction.</p><p><b>METHODS</b>Internal ultrasonic liposculpture system combined postoperative continual elastic stockings or bandages were used for reducing lymphatic burdens of the affected limbs by partly removal of lymphedematous tissues.</p><p><b>RESULTS</b>Edema regression in the affected limbs were obvious at 2 weeks postoperative and kept to stable without recurrence during 1 year follow-up.</p><p><b>CONCLUSIONS</b>Ultrasonic assisted liposuction combined with elastic compression is safe and effective for the treatment of primary limb lymphedema.</p>