RESUMO
Rheumatoid arthritis(RA), as a chronic autoimmune disease, has a high incidence and disability rate, causing significant suffering to patients. Due to its complex pathogenesis, it has not been fully elucidated to date, and its treatment remains a challenging problem in the medical field. Although western medicine treatment options have certain efficacy, they require prolonged use and are expensive. Additionally, they carry risks of multiple infections and adverse reactions like malignancies. The Chinese herbal medicine Rhododendron molle is commonly used in folk medicine for its properties of dispelling wind, removing dampness, calming nerves, and alleviating pain in the treatment of diseases like rheumatic bone diseases. In recent years, modern clinical and pharmacological studies have shown that the diterpenoids in R. molle are effective components, exhibiting immune-regulatory, anti-inflammatory, and analgesic effects. This makes it a promising candidate for treating RA with a broad range of potential applications. However, R. molle has certain toxic properties that hinder its clinical application and lead to the wastage of its resources. This study reviewed recent research progress on the mechanism of R. molle in preventing and treating RA, focusing on its chemical components, anti-inflammatory and analgesic properties and summarized the adverse reactions associated with R. molle, aiming to offer new ideas for finding natural remedies for RA and methods to reduce toxicity while enhancing the effectiveness of R. molle. The study seeks to clarify the safety and efficacy of R. molle and its extracts, providing a theoretical basis for its application prospects and further promoting the development and utilization of R. molle resources.
Assuntos
Humanos , Rhododendron/química , Artrite Reumatoide/tratamento farmacológico , Anti-Inflamatórios , Diterpenos/farmacologia , AnalgésicosRESUMO
OBJECTIVES@#To construct a YOLOv3-based model for diatom identification in scanning electron microscope images, explore the application performance in practical cases and discuss the advantages of this model.@*METHODS@#A total of 25 000 scanning electron microscopy images were collected at 1 500× as an initial image set, and input into the YOLOv3 network to train the identification model after experts' annotation and image processing. Diatom scanning electron microscopy images of lung, liver and kidney tissues taken from 8 drowning cases were identified by this model under the threshold of 0.4, 0.6 and 0.8 respectively, and were also identified by experts manually. The application performance of this model was evaluated through the recognition speed, recall rate and precision rate.@*RESULTS@#The mean average precision of the model in the validation set and test set was 94.8% and 94.3%, respectively, and the average recall rate was 81.2% and 81.5%, respectively. The recognition speed of the model is more than 9 times faster than that of manual recognition. Under the threshold of 0.4, the mean recall rate and precision rate of diatoms in lung tissues were 89.6% and 87.8%, respectively. The overall recall rate in liver and kidney tissues was 100% and the precision rate was less than 5%. As the threshold increased, the recall rate in all tissues decreased and the precision rate increased. The F1 score of the model in lung tissues decreased with the increase of threshold, while the F1 score in liver and kidney tissues with the increase of threshold.@*CONCLUSIONS@#The YOLOv3-based diatom electron microscope images automatic identification model works at a rapid speed and shows high recall rates in all tissues and high precision rates in lung tissues under an appropriate threshold. The identification model greatly reduces the workload of manual recognition, and has a good application prospect.
Assuntos
Humanos , Diatomáceas , Afogamento/diagnóstico , Fígado/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Microscopia Eletrônica de VarreduraRESUMO
<p><b>OBJECTIVE</b>To investigate the nutritional status of children on maintenance hemodialysis due to stage 5 chronic kidney disease (CKD) and the clinical significance of nutritional assessment indices.</p><p><b>METHODS</b>A total of 21 children on maintenance hemodialysis due to stage 5 CKD were grouped according to body mass index. The nutritional status was assessed based on anthropometric parameters, biochemical parameters, inflammatory factors, residual renal function, indices of dialysis adequacy, and resting energy expenditure. Related indices were compared between the children with malnutrition and those with normal nutritional status.</p><p><b>RESULTS</b>Of the 21 children, 10 had malnutrition and 11 had normal nutritional status. There were significant differences between the two groups in anthropometric parameters, levels of leptin, insulin-like growth factor-1, interleukin-1, interleukin-6, and tumor necrosis factor-α, and mean 24-hour residual urine volume (P<0.05), while there were no significant differences in albumin, prealbumin, CONCLUSIONS: urea clearance index (Kt/V), and measured resting energy expenditure.</p><p><b>CONCLUSIONS</b>Anthropometric parameters, biochemical parameters, residual renal function, and inflammatory factors have an important value in evaluating the nutritional status of children with stage 5 CKD on maintenance hemodialysis. Further studies are needed to investigate the value of the measurement of resting energy expenditure in the evaluation and monitoring of nutritional status in children with stage 5 CKD on maintenance hemodialysis.</p>
Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Metabolismo Energético , Interleucina-6 , Sangue , Leptina , Sangue , Estado Nutricional , Diálise Renal , Insuficiência Renal Crônica , Sangue , Terapêutica , Fator de Necrose Tumoral alfa , SangueRESUMO
N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing. The patient became seizure-free with a combination of valproate and lamotrigine. Functional investigation was carried out using recombinant NMDARs containing a GluN2A-N447K mutant that is located in the ligand-binding domain of the GluN2A subunit. Whole-cell current recordings in HEK 293T cells revealed that the N447K mutation increased the NMDAR current density by ~1.2-fold, enhanced the glutamate potency by 2-fold, and reduced the sensitivity to Mg inhibition. These results indicated that N447K is a gain-of-function mutation. Interestingly, alternative substitutions by alanine and glutamic acid at the same residue (N447A and N447E) did not change NMDAR function, suggesting a residual dependence of this mutation in altering NMDAR function. Taken together, this study identified human GluN2A N447K as a novel mutation associated with epilepsy and validated its functional consequences in vitro. Identification of this mutation is also helpful for advancing our understanding of the role of NMDARs in epilepsy and provides new insights for precision therapeutics in epilepsy.
Assuntos
Adolescente , Humanos , Masculino , Epilepsia Rolândica , Genética , Mutação , Receptores de N-Metil-D-Aspartato , GenéticaRESUMO
<p><b>OBJECTIVE</b>To investigate the clinical features and prognosis of acute renal failure (ARF) caused by rhabdomyolysis (RM) in children.</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data, laboratory examination, and prognosis of 26 RM children with ARF.</p><p><b>RESULTS</b>The causes for all 26 RM children with ARF were non-traumatic diseases, and the three most common causes were infection (69%), diabetes (12%), and metabolic disease (8%). In the RM children with ARF, the five most frequent clinical manifestations were fever (69%), multiple organ dysfunction syndrome (69%), convulsion (46%), oliguria or anuria (35%), and tea-colored urine (27%). All 26 children had a serum creatine kinase (CK) level of >1 000 IU/L, among whom 26 had increased aspartate aminotransferase, 25 had increased alanine aminotransferase, 25 had increased creatine kinase isoenzyme, and 23 had increased lactate dehydrogenase. Serum myoglobin (Mb) was measured in 22 children and was found to increase in all these children. The mean time for CK to decrease to below 1 000 IU/L was 10±5 d. There was no significant difference in the time to CK recovery between the 10 children who were treated with conventional treatment as well as continuous venous-venous hemofiltration and those who were not treated with blood purification (P>0.05). Of all 26 RM children with ARF, 7 were withdrawn from the treatment, and 19 had normal renal function after treatment.</p><p><b>CONCLUSIONS</b>ARF and multiple organ dysfunction syndrome are major complications in RM children. The major primary disease for RM children with ARF is infectious disease. CK is the major marker for the diagnosis of RM. Early diagnosis and appropriate treatment may reverse ARF and improve prognosis.</p>
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Injúria Renal Aguda , Creatina Quinase , Sangue , Estudos Retrospectivos , Rabdomiólise , TerapêuticaRESUMO
Paeoniflorin (PAE) is the most abundant compound in Xuebijing injection widely used to treat sepsis. We aimed to investigate effect of PAE on expression of soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) in a rat model of sepsis. Wistar rats were divided into Normal, Model, and PAE groups (n=20 each). Endotoxin was administrated at 5 mg/ml/kg in Model and PAE rats to establish rat sepsis model. 1 h after endotoxin administration, PAE was administrated at 4 ml/kg in PAE group once per day for 3 days. Routine blood tests and biochemical indexes were assessed, including aspartate aminotransferase (AST) and creatine kinase-MB (CK-MB). The plasma sTREM-1 level was measured using quantitative ELISA. At the end of experiment, the small intestine, liver, kidney and lung were subjected to pathological examinations. A rat model of sepsis-induced multiple organ dysfunction syndrome (MODS) was established successfully with endotoxin administration (5 mg/ml/kg), evidenced by histo-pathological examinations, routine blood tests and biochemical indexes: platelet count decreased and white blood cell count increased (p<0.05), CK-MB and AST increased (p<0.05). PAE treatment significantly reduced the plasma levels of AST, CK-MB, and sTREM-1, compared to Model group (p<0.05). Meanwhile, sepsis-induced damages in the liver, lung, stomach and intestinal mucosa were also markedly ameliorated by PAE treatment. PAE demonstrated a significantly protective effect in a rat model of sepsis by decreasing plasma sTREM-1 level, reducing inflammation, preventing MODS and protecting organ functions.
Assuntos
Animais , Ratos , Aspartato Aminotransferases , Creatina , Ensaio de Imunoadsorção Enzimática , Testes Hematológicos , Inflamação , Mucosa Intestinal , Intestino Delgado , Rim , Contagem de Leucócitos , Fígado , Pulmão , Modelos Animais , Insuficiência de Múltiplos Órgãos , Plasma , Contagem de Plaquetas , Ratos Wistar , Sepse , EstômagoRESUMO
<p><b>OBJECTIVE</b>To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.</p><p><b>METHODS</b>Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.</p><p><b>RESULTS</b>A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.</p><p><b>CONCLUSION</b>A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.</p>
Assuntos
Criança , Feminino , Humanos , Agenesia do Corpo Caloso , Diagnóstico , Genética , Sequência de Bases , Encéfalo , Patologia , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda , Diagnóstico , Genética , Eletroencefalografia , Epilepsia , Diagnóstico , Genética , Éxons , Imageamento por Ressonância Magnética , Proteínas Associadas aos Microtúbulos , Genética , Mutação , Neuropeptídeos , GenéticaRESUMO
Most children patients with chronic kidney disease show immune disorders and defects of immune functionality.There are significant increases in various pathogen infections,especially streptococcus pneumonia,hepatitis B virus,and influenza virus.Streptococcus pneumonia is the most common cause of bacterial pneumonia and otitis media worldwide,and the main pathogens of bacterial meningitis as well.Children treated by hemodialysis are in high risk circumstance susceptible to hepatitis B virus.Influenza is a highly contagious disease with extremely strong dissemination capability.The organizations of U.S.Advisory Committee on Immunization Practices (ACIP),and Kidney Disease:Improving Global Outcomes (KDIGO) specifically recommends 3 vaccines,namely,hepatitis B virus,influenza virus (inactivated),and pneumococcal vaccine for patients with chronic kidney disease and chronic dialysis.Vaccination is a specific preventive and an effective protective measure for patients of chronic kidney disease and undergoing dialysis.
RESUMO
Objective To analyze the clinical characteristics and the prognosis of congenital solitary kidney in 9 children and to find the causes of renal impairment and factors associated with the prognosis.Methods The clinical data of 9 children with congenital solitary kidney in Beijing Children's Hospital Affiliated to Capital Medical University were analyzed,retrospectively.Data of long-term prognosis were collected through follow-up study.Results Five girls and 4 boys were involved in the analysis,ranging from 3.9 to 16.0 years old.The mean inpatient age was 9.9 yearsold.The patients showed different symptoms in renal impairment of solitary kidney:9 patients with proteinuria,and 3 of them had manifestation of asymptomatic proteinuria,in the early stage,3 with abnormalities of renal functions,3 diagnosed as nephrotic syndrome,and 2 with purpuric nephropathy.In the ultrasound examination of renal morphology,4 cases had normal echo image,5 cases had enhanced echo image and 2 patients had developmental malformation of the solitary kidney.The patients received follow-up visits within 1.5 to 7.0 years.The disease deteriorated into chronic kidney disease (stage 4-5) in 3 patients,1 patient underwent dialysis treatment,1 patient developed consistent and progressive proteinuria;whereas proteinuria disappeared in 4 patients and renal functions remained normal.Conclusions The renal impairment of congenital solitary kidney is mainly manifested as proteinuria,without symptoms in the early stage.In some patients,renal impairment can deteriorate into abnormalities of renal function or renal failure.The early ultrasound screening of the urinary system is recommended.Long-term follow-up should be conducted in children of solitary kidney to find early renal impairment and take appropriate treatment for them,thus to delay the occurrence and deterioration of renal impairment.
RESUMO
<p><b>OBJECTIVE</b>To investigate the serum levels of estradiol (E2) and progesterone (P) in patients with the auras of threatened abortion (ATA), i.e., fetal irritability and vaginal bleeding, and the relation with prognosis.</p><p><b>METHODS</b>Chinese medicine syndrome of 598 pregnant women with ATA consulted in authors' hospital were differentiated into 5 types, 151 patients of Shen-deficiency type; 151 of Pi-Shen deficiency type; 36 of qi-blood insufficiency type, 235 of blood-heat type, and 25 of traumatic injured type. Their serum levels of E2 and P at the 5th to 13th gestation week were monitored by competitive chemiluminescnet enzyme immunoassay. And the outcome of pregnancy, continued or defeated, was observed.</p><p><b>RESULTS</b>(1) From the 7th gestation week on, serum E2 level in women with continued pregnancy (CP) increased continuously, showed a higher value than that at the previous week (P < 0.05), and was higher than that in women with defeated pregnancy (DP) of same gestation age (P < 0.05). (2) Serum P level was not different in CP women at various gestation age (P > 0.05), but from the 7th week on, it was higher in CP women than in DP women of same gestation age (P < 0.05). (3) The comparison of serum E2 in CP versus DP of women with Shen-deficiency type or Pi-Shen deficiency type was identical to that in CP versus DP of all women enrolled.</p><p><b>CONCLUSIONS</b>Serum levels of E2 and P in women with ATA at 5th to 13th gestation weeks were obtained. The 7th week of pregnancy is the critical period of pregnancy development, a comparative high E2 levels and its sustained and steady elevation indicates the good-ending of pregnancy with fetal irritability and vaginal bleeding. The Chinese medicine syndrome presented in women with ATA is dominantly the Shen-deficiency type. The variation of serum E2 is one of the important material foundation in pregnancy with fetal irritability and vaginal bleeding of Shen-deficiency type.</p>
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Ameaça de Aborto , Sangue , Diagnóstico Diferencial , Estradiol , Sangue , Medicina Tradicional Chinesa , Primeiro Trimestre da Gravidez , Progesterona , Sangue , Hemorragia UterinaRESUMO
Objective To investigate the clinical features fatal familial insomnia (FFI) and detection of the prion protein (PRNP) gene mutation in a family with FFI from Guangdong province.Methods The clinical features were analyzed in 2 patients from the family with FFI. The PRNP gene mutation was detected by using PCR and DNA sequence analysis in the proband. Results The main symptoms of the proband were characterized by progressive sleep impairment, behavior and cognitive dysfunctions; myoclonus was appeared in the late period of the disease and the whole durations of the disease were 9 months. The elder brother of the proband had the similar clinical manifestations with the duration of 11 months. The prion protein D178N mutation and also homozygous for Met in the 129 codon were found in the proband. Conclusion The typical clinical manifestations can help the diagnosis of FFI and the technique of PRNP gene mutation detection could provide a definite diagnosis.
RESUMO
Objective To investigate the iodine nourishment in women of child-beating age in high risk region of iodine deficiency disorders (IDD) in Qinghai Province. Methods According to The Notice to Launch a Reinforced Survey on IDD in High Risk Region issued by The Ministry of Public Health, 17 counties in 6 districts were selected as investigated area in Qinghai Province in 2007, using two stage cluster sampling and combining The National IDD Preliminary Surveillance Scheme, 30 women aged from 18 to 40 years were selected in each village, 1 or 2 villages in each town, 3 to 5 towns in each county, who were divided into newly wedding, pregnant, lactation and other women of child-bearing age. Iodine concentration in urine was detected by the method of As3+-Ce4+catalytic spectrophotometry. Results One thousand six hundreds and four urine iodine samples were analyzed. The median was 93.3 μg/L,52.1%(836/1604),31.8%(510/1604) and 12.4%(199/1604) was lower than 100,50 and 20 μg/L, respectively. It was 70.5%(527/747) and 43.0%(128/298) of women in Yushu and Haixi that had urinary iodine lower than 100 μg/L, respectively, while it was 50% of women in the 6 districts, to be specific, 88.3%(91/103) in Nangqian, 83.8% (62/74) in Zaduo and 70.7%(118/167) in Zhiduo Counties respectively. The median of urinary iodine in women who were not lactating and not pregnant was only 88.6 μg/L, of whom 53.9% (763/1415) lower than 100 μg/L. Conclusions The women of reproductive age in high risk region of IDD are deficient of iodine in Qinghai Province.
RESUMO
<p><b>BACKGROUND</b>In 2008, infants in some areas of China suffered from stones of the urinary system which were caused by melamine-contaminated milk formula. Most of the infants were asymptomatic, and a few suffered from acute renal failure induced by urinary obstruction by stones. This study aimed to assess the significance of blood purification therapy in treatment of infants with acute obstructive oligo-anuric renal failure. Corrective perception, timely diagnosis, and active treatment of this complex disease are critical factors that guarantee a quick recovery of renal function of infants and help them to prevent multiple organ system failure.</p><p><b>METHODS</b>Thirteen infants with acute renal failure induced by urinary multiple obstruction caused by melamine-containing stones who had been admitted to Beijing Children's Hospital Affiliated to Capital Medical University in 2008 were investigated for the epidemiological characteristics, image features and indications of dialysis. All these infants were treated with dialysis. The efficacy of dialysis was compared with that of two control groups treated with cystoscopic retrograde catheterization into the ureter and medical treatment for the recovery of renal function.</p><p><b>RESULTS</b>The 13 infants with life-threatening complications treated with dialysis showed a blood urea nitrogen (BUN) level of (30.9+/-7.9) mmol/L and a creatinine (Cr) level of (572+/-173) micromol/L. Of these infants, 8 were treated with peritoneal dialysis (PD), and 5 with hemodialysis (HD). Ten infants recovered to urinate 24-72 hours after dialysis and 3 infants with persistent ureteral obstruction were further treated with cystoscopic retrograde catheterization into the ureter for drainage, and urination resumed soon after the operation. The average time of PD and HD were (2.1+/-0.8) days and (1.2+/-0.4) days, respectively. The total average time of PD and HD dialysis was (1.77+/-0.83) days. The recovery time of renal function of infants after dialysis was (3.08+/-1.20) days, comparable to that of the two control groups treated with catheterization with a cystoscope or by medication. There was no significant difference in the recovery time of renal function among the three groups (P>0.05).</p><p><b>CONCLUSIONS</b>Melamine-contaminated milk formula may cause urinary stones and obstructive acute renal failure in infants. Dialysis is suggested to treat life-threatening complications such as hyperkalemia, oliguria or anuria if surgical intervention fails. If possible, hemodialysis or peritoneal dialysis can be performed early. Blood purification is feasible to help the infants overcome the critical stage of acute renal failure. Surgical measures can be taken to remove the obstruction if necessary.</p>
Assuntos
Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Injúria Renal Aguda , Cirurgia Geral , Terapêutica , China , Cistoscopia , Métodos , Testes de Função Renal , Diálise Peritoneal , Métodos , Diálise Renal , Métodos , Resultado do Tratamento , Triazinas , IntoxicaçãoRESUMO
Objective To investigate the association between cutaneous adverse drug reactions (CADRs) caused by antiepileptic drugs and HLA-B*1502 allele. Methods In 31 epileptic patients presented to the Epilepsy Clinic of the Second Affiliated Hospital of Guangzhou Medical College between January 2007 and May 2008, 13 had CADR to carbanazepine (CBZ) including 6 with Stevens-Johnson syndrome (SJS) and 7 with mild maculopapular exanthona (MPE);15 were CBZ-tolerant, and 3 had lamotrigine (LTG)-indueed MPE. All the patients underwent examinations using polymerase chain reaction with sequence specific palmers to analyze HLA -B*1502 allele frequencies, with 30 healthy subjects without a history of using CBZ or LTG as the control. Results HLA-B*IS02 allele frequency was 100% (6/6) in patients with CBZ-SJS, 57% (4/7) in patients with CBZ-induced MPE, and 33% (1/3) in patients with LTG-induced MPE. The frequency was 7% (1/15) in CBZ-tolerant patients and 10% (3/30) in the control subjects. Compared with the CBZ-tolerant patients and the control subjects, the patients with CBZ-induced SJS and MPE had significantly increased HLA -B*1502 allele frequency (P<0.05). Conclusions HLA-B*1502 allele is associated with CADRs to CBZ in epileptic patients.
RESUMO
Objective To investigate the clinical features and causes of misdiagnosis of complex partial status epilepticus (CPSE) in the elderly. Methods The clinical data of elderly patients with CPSE admitted in our department between January and December, 2008 with previous misdiagnosis were reviewed. The diagnosis of CPSE was established according to the diagnostic criteria of the International League Against Epilepsy (ILAE). All the patients underwent video-EEG examination, head magnetic resonance imaging (MRI), and routine biochemical examination, and were followed up for at least 3 months. Results Seven female CPSE patients were involved in this analysis including 2 with frontal lobe epilepsy and 5 with temporal lobe epilepsy. The conditions were misdiagnosed as a variety of diseases including Alzheimer's disease, cerebral infarction, coronary heart disease, encephalitis, hysterism, and schizophrenia, and the duration of the misdiagnoses ranged from 2 days to 40 years. Video-EEG showed slow background, continuous interictal discharges or high-voltage slow waves in the temporal or frontal lobe, or ictal discharges of complex partial seizures. After treatment with antiepileptic medications, 3 patients were free of epileptic episodes within 3 months, 3 still remained in complex partial status, and 1 had repeated CPSE. Conclusions Complex symptoms, atypical EEG, co-morbidity and social factors all contribute to misdiagnosis of CPSE in the elderly. Suspected patients should undergo video-EEG examination for a definite diagnosis as early as possible.
RESUMO
Objective To study the clinical features and genetic mechanism of myoclonic-astafic epilepsy (MAE) in infancy. Methods This study was conducted among 10 infants with MAE (including 7 male and 3 female patients) diagnosed between 2006 and 2008 according to the criteria of International League Against Epilepsy (2001). The clinical data including onset age, seizure type, physical signs, EEG, brain maguetic resonance imaging (MRI), effects of anti-epileptic drugs and prognosis were analyzed. The mutations of voltage-gated sodium channel subunit type 1 gene (SCN1A gene) were screened by denaturing high performance liquid chromatography and direct sequencing. Results The 10 MAE cases included 8 sporadic cases and 2 with a family history of febrile seizure and epilepsy. The onset age ranged from 5 months to 39 months, and all the MAE patients had multiple generalized seizure types, including myoclonic-atonic, myoclonic, atonic, tonic-clonic and absence seizures. Two patients had myoclonic status epilepticus, and 7 showed mental retardation. All the patients showed normal findings in MRI. SCN1A gene was screened in 8 of the MAE patients, and no mutation was found. Valproate, clonazepam and levetiracetam were effective in these MAE cases. Conclusion MAE is a rare epilepsy syndrome, whose genetic mechanism is still unclear. Valproate, clonazepam and levetiracetam are effective for MAE, which is associated with poor prognosis.
RESUMO
<p><b>OBJECTIVE</b>To investigate the frequency of large fragment aberrations of MSH2 and MLH1 genes from Chinese colorectal cancer (CRC) patients with family history.</p><p><b>METHODS</b>Sixteen exons of MSH2, nineteen exons of MLH1 and seven DNA sequences from the other genes of the samples were screened and checked by multiplex ligation dependent probe amplification (MLPA). First, the methodology was confirmed by testing the positive and negative control samples. Then, 32 CRC or hereditary nonpolyposis colorectal cancer (HNPCC) patients with family history and 20 cases of sporadic CRC were applied to investigate for the large fragment aberrations of MSH2 and MLH1 genes.</p><p><b>RESULTS</b>The genomic DNA fragment deletions of all positive controls were identified and verified by MLPA. Three cases of 32 familial (hereditary) CRC/HNPCC were detected and identified to be the germline heterozygous deletions of MSH2 gene, of which exons 1-7 were deleted from patient No.3, exon 11 from No.25 and exons 2-6 from No.11. However, no genomic DNA fragment aberration of either MSH2 or MLH1 gene was uncovered from 20 sporadic CRC.</p><p><b>CONCLUSION</b>Large DNA fragment aberrations of MSH2 gene was a frequent cause of Chinese HNPCC and CRC patients with family history, and the identification of those aberrations should be included in the regular genetic analysis for CRC/HNPCC patients.</p>
Assuntos
Humanos , Proteínas Adaptadoras de Transdução de Sinal , Genética , Povo Asiático , Genética , Pareamento Incorreto de Bases , China , Neoplasias Colorretais Hereditárias sem Polipose , Etnologia , Genética , Análise Mutacional de DNA , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS , Genética , Mutação , Proteínas Nucleares , GenéticaRESUMO
<p><b>OBJECTIVE</b>To determine the correlation between the serum level of B-natriuretic peptide (BNP) and hemodynamic variables and to evaluate the diagnostic value of BNP in patients with decompensated heart failure (HF).</p><p><b>METHODS</b>BNP levels (TRIAGE BIOSITE Diagnostics, San Diego, USA) were obtained by a rapid immunofluorescence assay in 117 patients with dyspnea including cardiogenic group (75 patients) and lung disease (42 patients). Hemodynamic parameters of 53 patients [male 28, female 25, mean age (71.6 +/- 9.8) years] with HF were determined and left ventricular end-diastolic diameter (LVEDD) of all patients were measured by echocardiogram.</p><p><b>RESULTS</b>Pulmonary capillary wedge pressure (PCWP, mm Hg), mean pulmonary arterial pressure (MPAP, mm Hg), right atrial pressure (RAP, mm Hg) and BNP (ng/L) levels according to New York Heart Association (NYHA) class were: 16.10 +/- 3.50, 22.50 +/- 4.68, 3.11 +/- 1.90, 271.25 +/- 159.29 in NYHA class II, respectively; 21.50 +/- 4.42, 28.60 +/- 9.35, 8.95 +/- 3.86, 619.58 +/- 237.48 in NYHA class III; 29.28 +/- 8.61, 36.50 +/- 12.32, 15.27 +/- 4.96, 1519.28 +/- 618.62 in NYHA class IV (P < 0.01-0.05), respectively. PCWP, MPAP, RAP and plasma BNP levels were directly proportional to cardiac function. The plasma BNP levels had also significant positive correlations with PCWP, MPAP, RAP, (r = 0.59, 0.50, 0.32, P < 0.05-0.01). BNP level [(918.48 +/- 453.25) ng/L] of the group with LVEDD (n = 24) > or = 60 mm was much higher than that of the group with LVEDD (n = 29) < 60 mm [(298.58 +/- 167.51) ng/L]. However, the latter was significantly higher than that in pulmonary dyspnea group with a normal left and right ventricular end-diastolic diameter [(35.4 +/- 26.4) ng/L, P < 0.01]. There was a great difference of BNP between cardiogenic dyspnea group [(761.30 +/- 480.47) ng/L]and lung dyspnea group [(35.4 +/- 26.4) ng/L], P < 0.01.</p><p><b>CONCLUSIONS</b>The plasma BNP levels had significant positive correlations with PCWP, MPAP, RAP. BNP is a cardiac neurohormone secreted from cardiac ventricles as a response to ventricular volume expansion and pressure overload. Rapid testing BNP should be of help to differentiate pulmonary dyspnea from cardiac etiologies.</p>
Assuntos
Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência Cardíaca , Diagnóstico por Imagem , Peptídeo Natriurético Encefálico , Sangue , UltrassonografiaRESUMO
<p><b>OBJECTIVE</b>This study was aimed at establishing an efficient mutation analysis technique system to screen the germline mutations in the adenomatous polyposis coli (APC) gene that predisposes the disease susceptibility in familial adenomatous polyposis (FAP) and to investigate the relationship between genotype and phenotype of APC gene.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood lymphocytes of 22 patients with clinically diagnosed FAP and was forwarded to screening for germline mutations by using denaturing high-performance liquid chromatography(DHPLC), protein truncation test (PTT) and DNA sequencing in APC gene. Analysis of genotype-phenotype was also performed on the clinical data of the FAP patients.</p><p><b>RESULTS</b>Thirteen APC germline mutations were identified in 22 FAP patients. All of the mutations were nonsense or framshift mutations. Analysis of genotype-phenotype demonstrated that the FAP patients with mutations in the 5'or 3'extreme parts of the APC gene showed mild clinical symptoms. However, the FAP patients with mutations in the middle of the APC gene displayed typical or severe clinical symptoms.</p><p><b>CONCLUSION</b>The technique system established in this study can efficiently and sensitively detect the mutations in APC gene. It is useful in the molecular diagnosis of pre-symptomatic FAP cases in FAP family. The clinical features of FAP patients may be related to their genotypes of APC gene.</p>
Assuntos
Humanos , Polipose Adenomatosa do Colo , Genética , Proteína da Polipose Adenomatosa do Colo , Genética , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Mutação da Fase de Leitura , Genética , Genótipo , Mutação em Linhagem Germinativa , Fenótipo , Reação em Cadeia da PolimeraseRESUMO
<p><b>OBJECTIVE</b>To increase the sensitivity and specificity of conventional gene diagnosis of facioscapulohumeral muscular dystrophy 1A(FSHD1A) by analyzing the distribution of translocation between chromosomes 4q35 and 10q26 in suspected FSHD cases.</p><p><b>METHODS</b>The Bgl II- Bln I dosage test was performed to detect translocation between chromosomes 4q35 and 10q26 in 7 cases of presymptomatic FSHD patients showing positive result in gene diagnosis and 5 cases of sporadic FSHD patients showing negative result in gene diagnosis. DNA samples were digested with Bgl II and Bln I, followed by agrose gel electrophoresis. Probe p13E-11 was labeled with alpha-(32) P dCTP, followed by Southern hybridization. Then the ratio between the chromosomes 4 and 10 derived signal intensities was judged and hence was made known whether there was interchromosomal translocation between chromosomes 4 and 10.</p><p><b>RESULTS</b>The Bgl II-Bln I dosage test revealed a translocation from chromosome 4q35 to 10q26 in one presymptomatic FSHD patient, thus indicating the result of gene diagnosis for her might be false positive. There was one translocation from chromosome 10q26 to 4q35 detected in one sporadic FSHD patient, indicating the result of gene diagnosis for her might be false negative. There were no translocations between chromosomes 4 and 10 in the other 10 cases.</p><p><b>CONCLUSION</b>The Bgl II-Bln I dosage test can detect the translocation between chromosomes 4q35 and 10q26. It can improve the accuracy of the conventional method for gene diagnosis of FSHD1A.</p>