A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease

Menkes disease is a rare X-linked recessive .hereditary disorder first described by Menkes et al in 1962.1 including The gene mutation results in clinical features pili torti, unusual facies, mental/growth retardation and metabolic dysfunction. The pathogenic gene ATP7A was identified in 1993.2 It is located on chromosome X and encodes a transmembrane Cu^2＋ transporter. Here we reported the clinical manifestations and results of genetic study of a family with Menkes disease. In this family, a deletion mutation in ATP7A gene is responsible for the disease.     

Bilateral Pheochromocytoma as First Presentation of von HippeI-Lindau Disease in a Chinese Family

Objective To investigate the clinical and genetic features of a Chinese family with yon Hippel- Lindau （VHL） disease revealed by bilateral pheochromocytoma. Methods The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members （including 3 patients） was amplified by polymerase chain reaction （PCR） and the PCR products were directly sequenced. Results The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A （Arg161Gln） in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members. Conclusion VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.     

Genetic study of a large Chinese kindred with von Hippel-Lindau disease

Background Von HippeI-Lindau (VHL) disease is a heraditary cancer syndrome caused by germline mutations of the VHL tumor on the suppressor gene. This study was to show the clinical characteristics of a large Chinese kindred with yon HippeI-Lindau disease and to evaluate the role of the genetic test of VHL disease in the diagnosis of VHL disease and clinical screening of members of the VHL disease family.Methods DNA extracted from peripheral blood was amplified by PCR to three exons of the VHL gene in 27 members of a large kindred with VHL disease. PCR products were directly sequenced. The involvements of multi-organs in the kindred with VHL disease were confirmed by history taking and radiography.Results Of 47 members in the four generations of the kindred, 18 members were diagnosed as having VHL desease. Clinical manifestations of 18 patients included: central nervous system (CNS)hemangioblastoma (5), renal cell carcinoma and CNS hemangioblastoma (3), renal cell carcinoma and retinal angioma (3), renal cell carcinoma and multiple pancreatic cysts (1), renal cell carcinoma and retinal angioma and multiple pancreatic cysts (2), renal cell carcinoma and CNS hemangioblastomas and multiple pancreatic cysts (1), and multiple pancreatic cysts and multiple renal cysts (1), multiple pancreatic cysts (2). The common lesions of the 18 patients were renal cell carcinoma (55.6%), CNS hemangioblastoma (50.0%), retinal angioma (27.8%), and multiple pancreatic cysts (38.9%). Among the 27 members who volunteered for genetic analysis, 15 members including 9 affected family patients and 2 asymptomatic patients and 4 carriers, who are still alive, presented a codon 78 from Asn to Ser change at nucleotide 446 (A→G) in exon 1. Four members were carriers with the same VHL gene mutation. Two asymptomatic patients were initially diagnosed by genetic testing and subsequently confirmed radiologically and surgically. Members without gene mutation had no clinical evidence of VHL disease.Conclusions The large Chinese kindred with VHL disease was classified as type I . The main characteristics in the kindred were higher incidence of renal cell carcinoma and lower incidence of retinal angioma. Genetic test plays an important role in early detecting asymptomatic patients and the carriers in clinical screening of members of the families with VHL disease. It is also important to prevent the transmission of VHL disease to their offsprings in the kindred.     

散发性甲状旁腺癌一例分子遗传学分析

Objective To analyze the clinical and molecular genetic characteristics of one patient with sporadic parathyroid carcinoma(s-PC).Methods The clinical profile,laboratory data and paraffinembedded tissue sample of a s-PC patient were collected at our hospital.Genomic DNA was extracted from the leukocytes of peripheral blood and paraffin-embedded tissue of this patient.All 17 exons of HRPT2 gene including the flanking regions of introns were amplified by PCR.The mutations of HRPT2 gene were analyzed by directly sequencing the amplified DNA fragments.Parafibromin encoded by HRPT2 gene was analyzed by immunohistochemistry.Results The patient was diagnosed as s-PC by the clinical presentations,laboratory examinations and typical pathologic characteristics.HRPT2 germline mutation was identified as a base mutation at codon 222(CGA＞TGA)and caused a nonsense mutation at the codon (R222X) resulting in a truncated protein.Parafibromin was completely lost while comparing the normal parathyroid tissues by immunohistochemistry.Condusion The altered expression of parafibromin caused by HRPT2 gene mutation is one of the molecular mechanisms for explaining the clinical manifestations of this patient.     

The features of image and pathology of primary central nervous system lymphoma

Objective To investigate the clinical features of primary central nervous system lymphoma （PCNSL） for increasing the accuracy rate of diagnosis. Methods From January 1995 to November 2005, 16 patients with primary central nervous system lymphoma （PCNSL） were treated. The clinical materials, such as focal position, image manifestation, histopathological features, diagnosis, treatment, were summarized and analyzed.     

散发性甲状旁腺癌一例分子遗传学分析

Objective To analyze the clinical and molecular genetic characteristics of one patient with sporadic parathyroid carcinoma(s-PC).Methods The clinical profile,laboratory data and paraffinembedded tissue sample of a s-PC patient were collected at our hospital.Genomic DNA was extracted from the leukocytes of peripheral blood and paraffin-embedded tissue of this patient.All 17 exons of HRPT2 gene including the flanking regions of introns were amplified by PCR.The mutations of HRPT2 gene were analyzed by directly sequencing the amplified DNA fragments.Parafibromin encoded by HRPT2 gene was analyzed by immunohistochemistry.Results The patient was diagnosed as s-PC by the clinical presentations,laboratory examinations and typical pathologic characteristics.HRPT2 germline mutation was identified as a base mutation at codon 222(CGA＞TGA)and caused a nonsense mutation at the codon (R222X) resulting in a truncated protein.Parafibromin was completely lost while comparing the normal parathyroid tissues by immunohistochemistry.Condusion The altered expression of parafibromin caused by HRPT2 gene mutation is one of the molecular mechanisms for explaining the clinical manifestations of this patient.     

Clinical characters of gastrointestinal lesions in intestinal Behcet's disease

Objective To investigate the clinical features,diagnosis methods,therapeutic principles of intestinal Behcet's disease.Methods The clinical data of 45 patients with confirmed intestinal Behcet's disease admitted to Peking Union Medical College Hospital from August 1998 to April 2010 were retrospectively analyzed.Results The clinical courses of patients with intestinal Behcet's disease were from 26 days to 33 years,and the average duration was 6.32±1.01 years.The appearance of extra-gastrointestinal symptoms...     

CLINICAL AND GENETIC ANALYSIS OF THREE FAMILIES WITH FAMILIAR AMYLOID POLYNEUROPATHY

Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macau were investigated on aspects of clinical manifestations, histological features, and gene analysis. Results All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. Conclusion FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.     

Adrenal mydolipoma(report of 6 cases)

Objective To study the clinical and pathological features of adrenal myelolipoma. Methods The clinical manifestation, experimental and imaging data of 6 patients with adrenal myelolipoma were retrospectively analyzed. Results The disease manifested nonspecific symptoms and signs, including faint lumber,flank or bulk pain. The diagnosis of adrenal myelolipoma depends on B-ultrosound scan.CT and MRI,revealing a fatty mass with various other densities such as soft tissue, intratumoural haemorrhage, calcification and residual adrenal cortex. Tumor excision and adrenalectomy were performed in all patients. The pathological examination showed that the tumor consists of mature fat cells and hematopoietic elements. The patients have been asymptomatic on following-up for 0.5 - 7 years and there is no recurrence of tumor. Conclusion CT and MRI images features are helpful for the pre-operative diagnosis of adrenal myelolipoma. Pathologically, it is characterized by a mixture of mature fat and hematopoietic elements     

APPLICATION OF LORNOXICAM TO PATIENT-CONTROLLED ANALGESIA IN PATIENTS UNDERGOING ABDOMINAL SURGERIES

FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…     

Dr.Zhang Ren''''s Experience in the Acupuncture Treatment of Different Diseases with the Same Therapeutic Principle

Dr.Zhang Ren,the chief physician,is the chairman of Shanghai Acupuncture and Moxibustion Association.Having been engaged in medicine for about 40 years,he is experienced in treating various intractable diseases.In his long years of clinical practice,he advocates taking the TCM differentiation as the basis to seek for the acupuncture method for treatment of modern intractable diseases.The author of this essay had the fortune to follow Dr.Zhang in study.The following is a summary of Dr.Zhang's experience in the acupuncture treatment for different intractable diseases with the same therapeutic principle.     

Luo Lingjie''''s Experience in Treating Chronic Nephropathy

In treating chronic nephropathy,Luo Lingjie,a chief physician,pays attention to regulating the balance between yin and yang,treating infection if present,and removing pathogenic factors.He prescribes gentle drugs and uses carefully strongly warming-tonifying ones,emphasizes the importance of persuading the patient to persist in treatment with medication and nurse one's health for recuperation,and is good at combined use of TCM and western medicine therapy and brings the merits of various therapies into full play,with obvious theraoeutic effects.     

Acupuncture Combined with Spinal Tui Na for Treatment of Primary Dysmenorrhea in 30 Cases

Objective: To observe the therapeutic effects in acupunture treatment of primary dysmenorrhea combined with spinal Tui Na, and study its mechanism. Methods: Thirty cases of the treatment group were treated by acupuncture combined with spinal Tui Na, and thirty cases in the control group were treated by routine acupuncture. Results: The total effective rate was 93.3% in the treatment group, and 73.3% in the control group, with a significant difference between the two groups (P<0.05). Conclusions: Acupuncture combined with spinal Tui Na has good prospects for treatment of primary dysmenorrhea.     

猪肺磷脂注射液联合经鼻持续气道正压通气对呼吸衰竭早产儿的临床疗效及肌酸激酶同工酶活性的影响

目的 探讨猪肺磷脂注射液联合经鼻持续气道正压通气(NCPAP)对呼吸衰竭早产儿的临床疗效及肌酸激酶同工酶活性(CK-MB)的影响.方法 选取呼吸衰竭早产儿80例,分为观察组和对照组各40例.对照组采用NCPAP给氧治疗,观察组给予NCPAP给氧联合猪肺磷脂气管内给药.观察两组患儿治疗前及治疗12h、24 h后PaO2、PaCO2、血氧饱和度(SaO2)、pH的变化情况,检测治疗前及治疗5d后血清CK-MB水平;评估两组患儿的临床治疗效果.结果 两组患儿PaO2、PaCO2、SaO2、pH比较,差异均有统计学意义(P＜0.05),其中观察组治疗后的PaO2、SaO2、pH均高于对照组,PaCO2则低于对照组.两组的PaO2、SaO2、pH均随观察时间延长而升高(P＜0.05),PaCO2均随观察时间的延长而降低(P＜0.05).观察组治疗有效率为87.5％,显著高于对照组的70.0％ (P ＜0.05).治疗5d后两组患儿血清CK-MB水平均较前降低(P＜0.05),且观察组明显低于对照组(P＜0.05).结论 猪肺磷脂注射液气管内给药联合NCPAP可以显著降低呼吸衰竭早产儿CK-MB的含量,提高治疗有效率,起到很好的呼吸循环支持作用.     

Survey and practice of reporting quality of randomized controlled clinical trials on traditional Chinese medicine

Evidence obtained from randomized controlled trials （RCTs） has been generally accepted as the gold standard in the evaluation of clinical effectiveness. Readers need to understand the trial design, implementation, results, analysis and interpretation, so as to fully Jnderstand the results of RCTs. Thus, the investigators of RCTs have to report these items in a complete, accurate and clear manner. Since 1998, we have conducted several evaluations on the reporting quality of RCTs published in Chinese journals on traditional Chinese medicine （TCM） and results have shown that there is an urgent need for higher quality RCTs on TCM.     

TCM Treatment of Ankylosing Spondylitis by Tonifying the Kidney and Strengthening the Governor Vessel

Ankylosing spondylitis is a chronic and progressive disorder with inflammation mainly involving the central axis joints. It mainly affects the cervical spine and the lumbosacral area, with the pathogenesis closely related to the kidney and the Governor Vessel (GV). TCM holds that the syndrome is deficiency in origin and excess in superficiality, which is due to insufficiency of the kidney, deficiency of GV, and blocking of the channels with the invasion of exogenous evil, leading to poor circulation of qi and blood and malnutrition of the bones, muscles and joints. The TCM method of tonifying the kidney and strengthening GV to regulate circulation of qi and blood and check the arthralgia pain should be adopted, with the Kidney-Tonifying and GV Strengthening Decoction (益肾强督汤) prescribed.     

IMPROVING P-gp EXPRESSION IN HUMAN MONONUCLEAR CELLS IN VITRO TRANSFECTED BY MULTIDRUG RESISTANCE-1 mRNA

CHEMOTHERAPY playsa greatrolein the treat- ment of malignanttumors,especiallyingynecolo- gicalones.But inanticancerchemotherapy,leuko-cytopeniaisfrequentlytheprimarydose-limitingsideeffect factor.Moreover,cancersarefrequentlychemoresistantbe-causeof overexpressionof P-glycoprotein(P-gp), which isencodedby multidrugresistancegene (MDR1 ) and detectableinup to50% ofhuman cancersand renderscellsresistancetoanticancerdrugs.The safetyand potentialtherapeuticbenefitof mdr1 gene transferredto h…