Objective To analysis the MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to improve the understanding of MRI manifestations of this disease. Meth?ods The clinical manifestations, neuroimaging analysis and genetic analysis were performed in the CADASIL pedigree proband and his families. Results Five of six cases were confirmed with C2182T mutation on exon 14 of the NOTCH3, of which three cases were diagnosed by MRI. Brain MRI findings included bilateral symmetric distributed confluent lesions in the subcortical and periventricular white matter in the frontal lobe, hypointensity on T1WI and hyperintensity on both T2WI and T2 FLAIR imaging in four cases. The external capsule was involved in three cases, with hyperintensity on T2WI. Subcortical lacunar lesions (SLLs) were shown in three cases. Lacunar infarction in the basal ganglia and thalamus were presented in four cases. T2WI hyperintensity at the brain stem was found in two cases. Cerebral microbleeds were re?vealed in three cases. There was no O’Sullivan sign in all the six cases. Conclusions There is characteristic change of MRI in CADASIL patients, which may play a very important role in screening these cases.

Objective To explore the application of PDCA cycle and Four in One model in the limb function rehabilitation after breast cancer surgery. Methods A total of 72 patients admitted Jingzhou Central Hospital, Hubei between January 2013 and September 2013 were treated as control group, while another 78 patients admitted between October 2013 and July 2014 as observation group. Patients in the control group received routine exercise while patients in the observation group received PDCA cycle and Four in One model of rehabilitation, which means doctors, nurses, patients and their families all participating the patients′ function exercise. They performed a dynamic exercise management through planning, implementation, examination, and treatment. Patients′exercise of optimum rate, patients′satisfaction and shoulder joint activity were compared in both groups. Results Optimum rate of functional exercise rose from 70. 83% to 92. 31%, patients′satisfaction from 81. 94% to 97. 43%;four shoulder joint mobilities of limb function after surgery, they were arm anteflexion and lifting, backward extention, outreach, adduction increasing from (156. 0 ± 3. 5)°, (36. 2 ± 4. 1)°, (156. 0 ± 3. 1)°, (28. 4 ± 5. 8)° to (167. 0 ± 3. 1)°, (41. 6 ± 4. 4)°, (169. 0 ± 3. 8)°, (37. 6 ± 6. 3)°. The differences were statistically significant (P<0. 05). Conclusions PDCA cycle combined with the model of Four in One applied in breast cancer postoperative function exercise can significantly improve the effect of rehabilitation nursing.

The proteins encoded by the Herpesviridae β-gene play a critical role in the replication stage of the virus. In this paper, phylogenetic analyses provided evidence that someβ-gene products, such as UL2 and UL23 from HSV1, have their homologous genes in its family, and also exist in prokaryotic organisms, indicating that these viruses appear to have been assembled over evolutionary time by numerous independent events of horizontal gene transfer.

OBJECTIVETo detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.

METHODMLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.

RESULTTwo cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.

CONCLUSIONThree cases had 22q11 microdeletion in the congenital heart defects.

Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; Female ; Heart Defects, Congenital ; diagnosis ; genetics ; Humans ; Infant ; Male ; Nucleic Acid Amplification Techniques ; methods

OBJECTIVEWernicke's encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. The disorder is still greatly underdiagnosed in children because of either a relatively non-specific clinical presentation in some cases or unrecognized clinical setting. The aim of this literature review was to provide knowledge of pediatric WE in an effort to assist in early diagnosis, thereby reducing the morbidity and mortality.

METHODSThe clinical manifestations, characteristic magnetic resonance imaging (MRI), diagnosis and treatment of one case and the other 35 cases reported in the last decade in children were summarized.

RESULTSThirty-six cases (22 boys and 14 girls, 2-month to 16-year-old) were analyzed. All the other 35 cases except for our case had underlying diseases: improper feeding in 25/35 cases, long-time vomiting in 5/35 cases, immunosuppressive therapy in 4/35 cases, long-time total parenteral nutrition without multivitamin preparations supplementation in 3/35 cases and anorexia nervosa in 1/35 case. The classic triad (mental-status changes, nystagmus and ophthalmoplegia, and ataxia) was seen in 6/36 cases. The other clinical manifestations included consciousness disturbance in 24/36 cases, infection in 22/36 cases, pathological reflex and muscular tension changes in 18/36 cases, convulsion in 17/36 cases, developmental delay in 4/36 cases and failure to thrive in 2/36 cases. Cerebrospinal fluid examination was performed in 31/36 cases, and a slightly raised protein concentration was seen in 7/31 cases. The cerebrospinal fluid lactate levels were detected in 4/36 cases (all increased), serum lactic acid levels in 7/36 cases (6/7 cases increased), serum pyruvate in 4/36 cases (all increased), thiamine pyrophosphate effect (TPPE) in 9/36 cases (all increased), and serum thiamine in 2/36 cases (increased in 1/2 cases). The brain computed tomography (CT) scan was conducted in 20/36 cases and 16/20 cases showed abnormal hypodensity in bilateral basal ganglia, one case revealed diffuse cortical atrophy. The brain MR scan was conducted in 13/36 cases and all the 13 cases revealed symmetrical abnormal signal in bilateral mamillary body and basal ganglia, and 7/13 cases showed abnormal signals in the tegmentum of midbrain, cerebral aqueduct and white matter around the third and fourth ventricles. The diagnosis of WE was confirmed by MR in 12 cases, triad combined with MR in 3 cases, autopsy in 1 case among the 13 cases who underwent MR scan. The diagnosis of WE was confirmed by the TPPE and/or lactate levels in 9/11 cases. The initial thiamine was given by intravenous or intramuscular infusion in 33/36 cases, unknown method in 1 case, orally in 1 case and no thiamine was used in 1 case. The dosage of thiamine was 100 mg daily in 29/35 cases, unknown in 3/35 cases, 50 mg daily in 2/35 cases, 600 mg daily in 1/35 case. 34/35 patients' clinical symptoms improved during 24 hours to 1 week after initial treatment, and 1 case died due to no response to thiamine. Nineteen patients were followed up for 2-2.5 months and 17 cases recovered completely.

CONCLUSIONWernicke's encephalopathy can be difficult to diagnose because of a relatively non-specific clinical presentation. The characteristic MRI findings and the dramatic response of neurological signs to parenteral thiamine will assist early clinical diagnosis. Early and timely thiamine supplementation could reverse the clinical features and improve the prognosis in most cases.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Sepsis ; complications ; Wernicke Encephalopathy ; complications ; diagnosis

OBJECTIVETo obtain specific small interfering RNAs (siRNA) for hepatitis B virus (HBV) and evaluate their interfering effect.

METHODSThree siRNAs were transfected into HepG2.2.15 cells, and the amount of HBV mRNA in the cell culture medium was quantified with real-time fluorescence quantitative RT-PCR. HBsAg in the culture media was assayed with Western blotting at different time points after transfection.

RESULTSThe cells transfected with specific siRNAs showed decreased levels of HBV mRNA and HBsAg (P<0.05), but those with nonspecific siRNA transfection as the negative control did not show such changes (P>0.05).

CONCLUSIONSpecific siRNA can significantly inhibit protein expression and mRNA synthesis of HBV in HepG2.2.15 cells in vitro.

Cell Line, Tumor ; Hepatitis B Surface Antigens ; analysis ; Hepatitis B virus ; drug effects ; physiology ; Humans ; RNA, Messenger ; analysis ; RNA, Small Interfering ; pharmacology ; RNA, Viral ; analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Transfection ; Virus Replication ; drug effects

OBJECTIVETo observe the correlation between brain-derived neurotrophic factor (BDNF) expression in the nerve system of diabetes mellitus (DM) rats and diabetic erectile dysfunction (ED).

METHODSDM rats were induced by injecting streptozotocin and erectile function test was done by injecting apomorphine (APO) at 1 month, 2 months, 3 months and 4 months. Then the brain, lumbosacral spinal cord, thoracic and lumbar sympathetic trunks, penis and prostate were taken from the diabetic and normal rats of the same age. The BDNF positive neurons and nerve fibers were shown by immunohistochemistry or fluorescence immunohistochemistry. The number and the grey density of BDNF positive cells and fibers were detected by image analysis.

RESULTSCompared with the control group, the erection frequency of the DM rats decreased at 2 months (P <0. 05) , and significantly at 3 and 4 months (P > 0.01) , and the BDNF positive neurons and nerve fibers in the cerebral cortex, lumbosacral spinal cord, thoracic and lumbar sympathetic trunks, penis and prostate of 1-month DM rats were reduced (P <0. 05). As time went on, BDNF declined progressively.

CONCLUSIONBDNF decreases in the central and peripheral nerve system in the early stage of diabetes mellitus, wich is closely correlated with diabetic ED.

Animals ; Brain-Derived Neurotrophic Factor ; biosynthesis ; Diabetes Mellitus, Experimental ; physiopathology ; Erectile Dysfunction ; physiopathology ; Male ; Nerve Tissue ; metabolism ; Rats ; Rats, Sprague-Dawley

A sensitive high performance liquid chromatography-electrospray ionization-mass spectrometry (HPLC-ESI-MS) method was established for the determination of eplerenone (EP) in human plasma. The plasma samples of EP were extracted with ethyl acetate and separated by HPLC on a reversed phase C18 column with a mobile phase of 10 mmol x L(-1) ammonium acetate water solution-methanol (30 : 70, v/v). EP was determined with electrospray ionization-mass spectrometry (ESI-MS) in the selected ion monitoring (SIM) mode. The calibration curves were linear over the range of 2-4 000 ng x mL(-1) for EP. The lower limit of quantification was 2 ng x mL(-1). The method has been successfully applied in the pharmacokinetic study of the EP tablets. The main pharmacokinetic parameters of EP after oral administration of 25 mg, 50 mg, 100 mg were as follows, t1/2: (4.9 +/- 2.1), (4.7 +/- 1.5), (5.9 +/- 1.2) h; AUC(0-infinity): (4 402 +/- 1 735), (8 150 +/- 2 509), (13 783 +/- 4 102) microg x h x L(-1); and MRT: (6.2 +/- 2.1), (6.6 +/- 1.3), and (7.2 +/- 1.6) h. Parameters of EP after oral administration of multiple doses of 50 mg were as follows, t1/2: (6.1 +/- 1.7) h; AUC(ss): (10 071 +/- 4220) microg x h x L(-1); MRT: (8.1 +/- 2.3) h; and DF: (3.2 +/- 1.0).
Chromatography, High Pressure Liquid ; methods ; Humans ; Spectrometry, Mass, Electrospray Ionization ; methods ; Spironolactone ; analogs & derivatives ; blood ; pharmacokinetics

OBJECTIVETo explore the distribution of deep inferior epigastric perforator vessel and application of the expanded perforator flap for large scar on hand and forearm.

METHODS20 healthy adults were selected to detect the distribution of deep inferior epigastric perforator vessel. 10 cases with cicatricial constriction on hand and forearm were treated with expanded perforator flap.

RESULTS425 perforator points were detected on the skin surface of abdomen in 20 adults. 80% of the points are located within the area which is 1.1 -5.8 cm far from the mid-line of abdomen. According to the Rand method, the percentage of the points in zone I , II , III were 26%, 43%, and 30%, respectively. There were few points in zone IV. The area around navel had a high density of points. The points were distributed asymmetrically at the two sides of abdomen. 10 cases were treated. Vascular deficiency happened at the distal end of one flap. All the other 9 flaps survived.

CONCLUSIONSThe expanded deep inferior epigastric perforator flap is thin and has a large size. It is very suitable for large scar on forearm or hand.

Adolescent ; Adult ; Burns ; complications ; Contracture ; etiology ; surgery ; Epigastric Arteries ; Female ; Humans ; Male ; Reconstructive Surgical Procedures ; methods ; Surgical Flaps ; blood supply ; Tissue Expansion ; Young Adult

OBJECTIVETo investigate the neurodevelopmental outcome of preterm infants who were discharged from neonatal intensive care unit (NICU) at 1 year of age and the impact factors contributing to the neurodevelopmental outcome and to study whether early intervention can improve the neurodevelopmental outcome in preterm infants.

METHODSEarly intervention guidance and follow-up visits were performed after the preterm infants discharged from NICU. The infants received the infant development test of Child Development Centre of China (CDCC) for neurological development at 1 year of age. The neurodevelopmental outcome was evaluated based on mental development index (MDI) and physical development index (PDI). MDI and PDI > 85 was defined as normal, MDI or PDI between 70 and 85 as critical and MDI or PDI < 70 as abnormal. Social-domestic and clinical factors related to neurological development were analyzed by ANOVA or chi-square test. Potential high risk factors were analyzed with logistic regression. To investigate the effects of intervention compliance on neurological development, the infants were classified into two groups according to different intervention compliances. The good compliance group included infants who received a through familial intervention for more than 4 days weekly (30 minutes daily) and consulted with physicians more than 5 times in 1 year. The infants who did not receive the interventions as the good compliance group served as the bad compliance group.

RESULTSThis study consisted of 210 infants, with a mean gestational age of 33.2 +/- 2.6 weeks and a mean birth weight of 1923.3 +/- 558.8 g. Normal, critical and abnormal neurological development occurred in 123 cases (58.6%), 61 cases (29.0%) and 26 cases (12.4%) respectively. Eighteen infants (8.6%) had mental lag and 9 (4.3%) had cerebral palsy (CP). The MDI and PDI scores of the good compliance group (111 cases) were 97.15 +/- 17.38 and 94.23 +/- 18.55 respectively, which were markedly higher than those of the bad compliance group (89.87 +/-18.92 and 87.20 +/-19.12; P < 0.05). The incidence of CP (3/111, 2.7%) in the good compliance group was lower than that of the bad compliance group (5/99, 6.1%) although there were no statistical differences. Parents' education level, multiple birth, serious intracranial hemorrhage and apnea were risk factors for adverse neurodevelopmental outcome.

CONCLUSIONSPreterm infants discharged from NICU are a high risk group of neurodevelopmental disablement. Early intervention can improve the neurodevelopmental outcome of perterm infants at high risk.

Child Development ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Intensive Care Units, Neonatal ; Logistic Models ; Nervous System ; growth & development ; Patient Compliance ; Prognosis ; Risk Factors