2010年 · 第123卷第10期

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is one of the best, or even the only,option for the cure of leukemia, especially for patients with high risk factors.1 However, it is limited by the shortage of suitable donors, because only 25%-30% patients can find a human leukocyte antigen (HLA)-identical sibling donor。

Abstract：Background Malignant hyperthermia (MH), manifesting as MH crisis during and/or after general anesthesia, is a potentially fatal disorder in response to volatile anesthetics and depolarizing muscle relaxants.Though typical features of MH episode can provide clues for clinical diagnosis, MH susceptibility is confirmed by in vitro caffeine-halothane contracture test (CHCT) in western countries.It is traditionally thought that MH has less incidence and fewer typical characteristics in Chinese population than their western counterparts because of the different genetic background.In this study, we investigated the clinical features of MH in Chinese cases and applied the clinical grading scale and CHCT for diagnosis of MH.Methods A cluster of three patients with MH, from January 2005 to December 2007, were included in the study.Common clinical presentations and the results of some lab examinations were reported in detail.The method of the clinical grading scale of diagnosis of MH was applied to estimate the qualitative likelihood of MH and predict MH susceptibility.Muscle fibers of femoral quadriceps of the patients were collected and CHCT was performed to confirm the diagnosis of MH.Results The clinical grading scales of diagnosis of the disease for these cases were all ranked grade D6, suggesting almost diagnosed ones.And the results of caffeine test were positive correspondingly, indicating that the patients should be diagnosed as MH susceptibility (MHS) according to diagnostic criteria of the North America MH group, which were already confirmed by clinical presentations and biochemical results.Conclusions These Chinese cases manifest as MH crisis.The clinical grading scale of diagnosis of MH may provide clues for clinical diagnosis.CHCT can also be used in confirming diagnosis of MH in Chinese cases though they have different genetic background from their western counterparts。

Abstract：Background Hypertensive intracerebral hemorrhage (HICH) is a severe disease with high morbidity and mortality.Timely removal of the hematoma through surgical procedures may effectively reduce secondary injuries.However, there has long been a debate over the proper timing of such surgery.In this study, we explored the optimal operation time for HICH patients by observing the pathological changes in perihematomal brain regions during different stages of onset.Methods Twenty-five specimens of brain tissue, obtained from perihematomal region of HICH patients in different phases, were subjected to haematoxylin-eosin (HE) staining, terminal deoxynucleotidyl transferase-mediated deoxyuridine 5-triphosphate nick-end labeling (TUNEL) staining and Caspase-3, matrix metalloproteinases-9 (MMP-9)immunohistochemical staining.The changing roles of necrosis and apoptosis and the expression of MMP-9 and Caspase-3 positive cells were all observed using image analysis.Results The obvious expression of TUNEL positive cells was recognized within 6 hours of ICH onset, reaching its peak between 6 hours and 24 hours in the early phase.Results were highly consistent with Caspase-3 and MMP-9 positive cell counts.Necrosis was found 6 hours after ICH onset and aggravated after 12 hours.Conclusions In the early phase, apoptosis was seen as a major modality of injury in the brain tissue of the perihematomal region and was strongly correlated with the expression of MMP-9 and Caspase-3.The results of the present study suggest that an operation performed as soon as possible after iCH onset may be optimal for preserving the nervous system function。

Abstract：Background The Hong Kong Special Administrative Region (HKSAR) of the People's Republic of China (PRG) has seen significant changes in its trauma service over the last ten years including the implementation of a regional trauma system.The author's institution is one of the five trauma centres designated in 2003.This article reports our initial clinical experience.Methods A prospective single-centre trauma registry from January 2004 to December 2008 was reviewed.The primary clinical outcome measure was hospital mortality.The Trauma and Injury Severity Score (TRISS) methodology was used for bench-marking with the North America Major Trauma Outcome Study (MTOS) database.Results There were 1451 patients.The majority (83.9%) suffered from blunt injury.The overall mortality rate was 7.8%.Severe injury, defined as the Injury Severity Score ＞15, occurred in 22.5% of patients, and was associated with a mortality rate of 31.6%.A trend of progressive improvement was noted.The M-statistic was 0.99, indicating comparable case-mix with the MTOS.The Z- and W-statistics of each individual year revealed fewer, but not significantly so, number of survivors than expected.Conclusions Trauma centre designation was feasible in the HKSAR and was associated with a gradual improvement in patient care.Trauma system implementation may be considered in regions equipped with the necessary socio-economic and organizational set-up。

Abstract：Background Inflammatory abdominal aortic aneurysms (IAAAs) are rare but distinct clinical entities of atherosclerotic abdominal aortic aneurysms (aAAAs).In this study we report a 20-year single institution experience for IAAA and analyze their clinical features and long term outcome in comparison with aAAA.Methods Between 1988 and 2008, 412 cases of abdominal aortic aneurysms (AAAs) underwent elective surgical operations, 11 (2.7%) of whom were diagnosed as IAAAs and 389 (94.4%) were diagnosed as aAAAs.The former group was matched in a case control fashion to a group of 33 patients with aAAAs having similar characteristics of age, gender, and preoperative risk factors.All available clinical, pathologic, and postoperative variables were retrospectively reviewed, and the two groups were compared.Results The two groups did not differ significantly in clinical characteristics and preoperative risk factors, although patients with IAAAs were significantly more symptomatic (100% vs.42.4%, P=0.001) and had larger aneurysms on admission ((7.4±0.7) cm vs.(6.3±0.9) cm, P=0.006).In IAAAs, the preoperative erythrocyte sedimentation rate was found to be significantly elevated compared to aAAA group ((44.5±9.1) mm/h vs.(11.4±5.4) mm/h, P ＜0.05).Surgical morbidity and mortality rates did not differ between the two groups.The operation time for patients with IAAAs was significantly longer than that for patients with aAAAs ((308±36) minutes vs.(224±46) minutes, P ＜0.05), but the cross-clamp time was similar in both groups ((41.5±6.2) minutes vs.(41.8±6.2) minutes, P=0.92).A five-year survival rate analysis showed no significant difference between the two groups (P=0.711).Conclusions Despite having more symptoms, larger size and longer operation time, patients with IAAA can now be treated with approaches that cause Iow morbidity and mortality, similar to patients with aAAA.Long term outcome of IAAA patients is of no difference from aAAA patients。

Abstract：Background Simultaneous liver and kidney transplantation (SLKT) has been proven to be a favorable treatment for combined renal and hepatic end-stage disease.However, recipients receiving SLKT have a long medical history, poor general condition that is often accompanied by anemia, hypoalbuminemia, coagulopathy, water-electrolyte imbalance and acid-base disorders.This study aimed to explore the indications, surgical techniques, therapeutic experience,prevention and treatment of postoperative complications of SLKT.Methods The clinical data of 22 SLKTs cases performed at the First Affiliated Hospital of Sun Yat-sen University from January 2001 to December 2008 were retrospectively studied.Indications for SLKT, surgical techniques, perioperative fluid management, immunosuppressive regimen and experience in prevention and treatment of postoperative complications were analyzed.Results All operations were successfully performed.Postoperative complications occurred in 13 cases (59.1%), including pleural effusions (7), intra-abdominal bleeding (2), biliary complications (2), repeated upper gastrointestinal bleeding (1), and acute liver graft rejection (1).All complications were treated conservatively.In this study, there were five deaths during follow-up, in which three perioperative deaths occurred due to serious conditions.Mortality at 3 months was 13.6%.The one and three year patient survival rate was 81.3% and 73.9% respectively.Conclusions SLKT is an effective therapy for end-stage liver disease with chronic renal failure or severe damage to renal function.It is a complex surgical procedure, causing a large disturbance of circulation and fluid balance, and more postoperative complications.The SLKT surgical techniques selected are based on the experience of surgeons, the anatomy of the recipient and primary diseases.It is essential to use the correct perioperative fluid management, reasonable immunosuppressive regimen, and prevention and treatment of postoperative infections, to improve the long-term patient survival after SLKT。

Abstract：Background Steroid 11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disease, accounts for 5%-8% of congenital adrenal hyperplasia.It was scarcely reported in China.This article reports two Chinese girls with 11β-OHD.Methods The two patients were sisters and presented with hypertrichosis, skin pigmentation, laryngeal prominence and virilization of external genitalia.The patients were followed up for their clinical symptoms and signs, hormone profile,and adrenal image.The genomic deoxyribonucleic acids of the patients and their parents were isolated.11β-hydroxylase gene (CYP11B1) was amplified by polymerase chain reaction and directly sequenced.Results Hormone tests showed that serum cortisol was in the low limit of normal range, whereas the concentrations of adrenocorticotropic hormone, testosterone and progesterone were much higher than those of normal adult females.There were obvious adrenal hyperplasia and advance of bone age.After 11 months of treatment with dexamethasone,the skin pigment became regressed; the breast, uterus and ovary gradually developed and normal menstrual cycle started while the manifestations of virilization did not change.A single point mutation of CYP11B1 (R454C, GGC → TGC)in all the members of this family was detected.The sisters were homozygous and their parents were heterozygous.Conclusions The clinical manifestation of 11β-OHD is complicated.The manifestation of virilization could not regress after treatment with dexamethasone.The novel missense mutation of CYP11B1 (R454C, GGC → TGC) is the pathogenesis of 11β-OHD at least in some Chinese patients。

Abstract：Background CartoMerge has been widely used in guiding circumferential pulmonary vein isolation (CPVI) for the treatment of paroxysmal atrial fibrillation (PAF).However, the procedure of landmarks selection varies among operators according to their experience.Techniques have to be established to standardize this procedure.We propose that Overlay Ref could facilitate this procedure.This paper aimed to report our initial experience with CPVI guided by Overlay Ref and CartoMerge for the treatment of PAF.Methods Fifty-nine patients with PAF were enrolled in this study.Using Overlay Ref technique, a reference image (inverted) was faded into the live fluoroscopic image.Landmarks of CartoMerge were selected from anatomic points of the top of superior pulmonary veins (PVs) and the bottom of inferior PVs guided by Overlay Ref image.Overlay Ref images were also used to guide the ablation procedure combining with CartoMerge.Results All patients were successfully mapped by CartoMerge guided by Overlay Ref.The distance between the mapping points and the CT surfaces was (1.42±0.67) mm for the patients as a whole.This led to a successful rate of 96%for isolation of pulmonary veins.Duration of ablation procedure was (92±17) minutes.And the total duration of procedure was (139±32) minutes.CartoMerge could also be performed just with 3 paries to 4 paries selected landmarks guided by Overlay Ref without a full anatomic model constructed by Carto.Then, the total duration of procedure could be shortened to (115±38) minutes.Conclusions Overlay Ref technique can facilitate the catheter ablation of PAF and can help to standardize the procedure of landmarks selection。

Abstract：Background Hemolysis-elevated liver enzymes-low platelet counts (HELLP) syndrome is a clinical condition occurring in middle and late stage pregnancy.It is characterized by hemolysis, elevated liver enzymes and low platelet counts.This study involves the analysis of the diagnosis, clinical characteristics and treatment of 59 cases of HELLP syndrome as well as the clinical classification, method of delivery and gestational age at delivery.Methods Clinical data from 59 cases of HELLP syndrome occurring from January 2000 to December 2009 were analyzed retrospectively.Thirty-five cases were classified as complete HELLP syndrome and 24 cases were considered partial HELLP syndrome.Results Twenty-six of the 59 analyzed patients (44%) with complete HELLP syndrome showed rapid onset, severe signs, symptoms, and complications in addition to a poor clinical outcome.Complications included multiple organ dysfunction syndrome (MODS) occurring in 18 cases, eclampsia (3 cases), placental abruption (3 cases), and perinatal death (4 cases).The remaining 33 cases (24 with partial and 9 with complete HELLP) were characterized by less severe signs, symptoms, complications and progression of the condition.Two of these cases were complicated with MODS (6.1%), and 1 with perinatal death (3.0%).Twelve non-radical-type cases received conservative treatment.The remaining 4 patients had recurring HELLP syndrome (6.78%).Conclusions HELLP syndrome is classified as the radical type and non-radical-type according to clinical characteristics and outcome.Classification of HELLP syndrome cases according to clinical features can help in the monitoring and treatment of the disease.Active termination of pregnancy should be considered for radical-type cases.Non-radical-type cases can undergo conservative treatment with close monitoring in an attempt to improve perinatal outcome without increasing maternal morbidity。

Abstract：Background Leukocyte adhesion deficiency type 1 (LAD-1)is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation.Correct and early diagnosis of LAD-1 is vital to the success of treatment and prevention of aggressive infections.The purpose of this study was to collect the clinical findings of the disease and to identify the genetic entity.Methods CD18 expression in the peripheral blood leukocytes from the patient, his parents and normal control was measured with flow cytometry.The entire coding regions of the CD18 gene were screened with direct sequencing genomic DNA.Results CD18 expression level on this patient's leukocyte surface was significantly decreased, with normal level in control group, his father and mother.Gene analysis revealed that this patient had a homozygous c.899A＞T missense mutation in exon 8 of CD18 gene, causing the substitution of Asp to Val at the 300 amino acid.His parents were both heterozygous carriers while no such mutation was found in 50 normal controls.Conclusion This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region (HCR) of CD18 and confirmed the heterogeneity of the mutations causing LAD-1, indicating it was quite beneficial to establish correct and early diagnosis in children with severe LAD-1。

Abstract：Background Studies on intrathoracic tuberculous lymphadenitis in adults are confined to the preliminary CT findings with ordinary CT and ordinary spiral CT.There has been no deepgoing study of multidetector CT to date.Multidetector CT could contribute to better imaging of intrathoracic tuberculous lymphadenitis in adults.The purpose of this study was to explore the multidetector CT features of intrathoracic tuberculous lymphadenitis in adults, and the correlation with clinical symptoms and pathologic changes.Methods Multidetector CT findings from 42 consecutive adult patients with intrathoracic tuberculous lymphadenitis were analyzed retrospectively with regard to locations, sizes, numbers, shapes, margins, and densities reviewing precontrast and enhanced images.CT results were correlated with clinical symptoms and pathologic results (n=37).Results One hundred and eighty-five intrathoracic lymph nodes that had tuberculous lymphadenitis in 42 patients were distributed mainly in regions 4R (n=37), 2R (n=33), 7 (n=31) and 10R (n=21), more than 2 regions were implicated in 34 patients.One hundred and twenty-two (72.2%) of the tuberculous lymphadenitis without confluence were oval or round with clear margins.On precontrast scanning, 78.4% of tuberculous lymphadenitis had a homogeneous density.Seven enhancement patterns were demonstrated in 169 tuberculous lymphadenitis from 37 patients with pathologic results:homogeneous enhancement with no clinical symptom (n=12), corresponded pathologically to tuberculous hyperplasia without caseous necrosis; heterogeneous enhancement with a small central no enhancement area, slight clinical symptoms (n=22), tuberculous granulomas with a little caseous necroses; peripheral irregular thick wall enhancement with a central area with no enhancement, slight clinical symptoms (n=52), tuberculous granulomas with some caseous necroses in the center; peripheral thin rim enhancement with a central area having no enhancement, moderate clinical symptoms (n=36), a few tuberculous granulomas with a great quantity of caseous necroses in the center; peripheral irregular enhancement without central enhancement, extending outside the capsule, severe clinical symptoms (n=4),caseous necroses ruptured from capsule; peripheral irregular rim enhancement with central separate enhancement,severe clinical symptoms (n=40), multiple lymph nodes with liquefaction of caseous necroses were adherent and confluent, rim and separation were tuberculous granulomas; no obvious enhancement, severe clinical symptoms (n=3).Caseous necrosis was usually associated with little tuberculous granulomas.Conclusions The main multidetector CT features of intrathoracic tuberculous lymphadenitis in adults are involvement of multiregional lymph nodes with oval or round shape and clear margins, a basically homogeneous density on precontrast scanning, multiple enhancement patterns, and they correlate closely with clinical symptoms.Multidetector CT could reveal pathological changes of intrathoracic tuberculous lymphadenitis in adults。

Abstract：Background Interleukin 10 (IL-10) is an important cytokine with anti-inflammatory, anti-immune and anti-fibrotic functions.This study aimed at evaluating the relationship between allele polymorphisms in the IL-10 promoter region and hepatitis B virus (HBV) or hepazitis C virus (HCV) infection.Methods The odds ratios (ORs) of IL-10 allele distributions in patients with HBV or HCV infection were analyzed against healthy controls.All the relevant studies in PubMed were identified, and poor qualified studies were excluded.The meta-analysis software REVMAN 4.2 was applied for investigating heterogeneity among individual studies and summarizing all the studies.The publication bias was also evaluated.Results This study demonstrated a significant association between the IL-10-592 A/C polymorphism and HBV infection in the Asian population under the overall effect size of allele A versus C.In our subgroup meta-analysis, we found a significant association of IL-10-592 A/C polymorphism to HCV infection susceptibility in Asian populations, although sensitivity analysis showed that the combined result was not associated with the worldwide population.Other IL-10 allele polymorphisms were not associated with HBV or HCV infection.Conclusion IL-10-592 A/C allele might be a risk factor for HBV or HCV in Asians but not in Europeans。

The transradial access has been used for percutaneous coronary intervention (PCI) for more than 10 years.1-3Many studies have confirmed several advantages of a radial route over the traditional transfemoral approach, some of which include a decreased incidence of access site complications, an earlier ambulation after the procedure which helps make patients more comfortable after the procedure。

With the increasing number of workers engaged in liquid-crystal displays (LCD) manufacturer, lung diseases related to this occupational exposure are attracting more attention.Herein we report a case of interstitial lung disease in a LCD processing worker, which was pathologically confirmed as pulmonary alveolar proteinosis (PAP)。

Primary hyperparathyroidism (PHPT) is a generalized disorder of calcium metabolism resulting from an abnormally high level of serum calcium and an increased level of parathormone (PTH).1,2 Traditionally, symptomatic PHPT patients present with a variety of disorders including fatigue, amyotrophy, memory impairment, emotional instability, hallucination, irritation, loss of consciousness, abdominal distention, nausea, vomiting, constipation, acute pancreatitis, refractory peptic ulcer, osteopenia, hypertension, etc.3-5 Acute pancreatitis (AP) is an uncommon presentation of PHPT.6-8 We report a typical case of primary hyperparathyroidism with hypercalcemic crisis presenting as acute gallstone pancreatitis。

Situs inversus totalis (SIT) is a rare congenital abnormality that affects approximately 0.605% of all live births.1 Liver grafts with SIT have traditionally been considered as an absolute contraindication for transplant because of anatomical concerns。

Organomegaly is a major component of POEMS syndrome (an acronym of polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes), which is a rare multisystem disorder of unknown pathogenesis。

The incidence of primary and metastatic diaphragm tumors is rare.Etiologically speaking, diaphragmatic metastases usually derive from either lymphatic or hematogenous spread.Furthermore, studies show that peritoneal stomata played an important role in this process.We herein cover a metastatic diaphragm tumor mimicking a liver lesion originating from ascending colon carcinoma, an entity that has rarely been reported previously。