Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age- related macular degeneration (AMD). We completed the exon-intron structure of the ABCR gene and detected a severe homozygous 5[prime] splice site mutation, IVS30+1G->T, in the four RP patients. The five CRD patients in this family are compound heterozygotes for the IVS30+1G- >T mutation and a 5[prime] splice site mutation in intron 40 (IVS40+5G- >A). Both splice site mutations were found heterozygously in two unrelated STGD patients, but not in 100 control individuals. In these patients the second mutation was either a missense mutation or unknown. Since thus far no STGD patients have been reported to carry two ABCR null alleles and taking into account that the RP phenotype is more severe than the STGD phenotype, we hypothesize that the intron 30 splice site mutation represents a true null allele. Since the intron 30 mutation is found heterozygously in the CRD patients, the IVS40+5G->A mutation probably renders the exon 40 5[prime] splice site partially functional. These results show that mutations in the ABCR gene not only result in STGD and AMD, but can also cause autosomal recessive RP and CRD. Since the heterozygote frequency for ABCR mutations is estimated at 0.02, mutations in ABCR might be an important cause of autosomal recessive and sporadic forms of RP and CRD.      

Anti B cell targeted immunotherapy for treatment of refractory autoimmune haemolytic anaemia in a young infant

We report the case of an 8 week old infant with fulminant autoimmune haemolytic anaemia refractory to conventional immunomodulating treatment. Massive haemolysis resulted in cardiac decompensation and acute renal failure which necessitated mechanical ventilation and peritoneal dialysis. Rituximab, a chimeric anti-CD20 monoclonal antibody, halted progression of the haemolytic process, but the patient died of acute viral pneumonia and disseminated fungal infection. Earlier introduction of rituximab might have prevented the renal complications. Paediatricians should be aware of this useful therapeutic tool for treatment of refractory autoimmune haemolytic anaemia and balance its use against the risk of potential life threatening infection.     

重症监护的临床调查——危重病人的输血与输血感染

院内感染严重影响重症监护室（ICU）危重病人的治疗。目前5例院内感染病例中就有1例是发生在ICU病房。院内输血感染（blood stream injections,BSIs）使危重病人的监护面临重大挑战。虽然输血感染的死亡率还存在争议,但大量的报道已经证实ICU内菌血症的增多使病人住院时间及费用均有所上升。如一项研究证实患院内菌血症后患者ICU住院期增加〉7天,住院费用额外增加〉2万美元。耐药菌群的不断出现与ICU病人病情加重进一步增加了BSIs的治疗难度。     

OC5Diagnosis of secondary syphilis due to oral lesions

Central giant cell granuloma (CGCG) is a benign lesion of unknown etiology that especially affects the jaws, usually appears in patients younger than 30 years and is more common in females than in males. Lesions generally occur in the anterior portion of the jaws and mandibular lesions frequently cross the midline. The conventional treatment of CGCG is surgical removal. According to clinical and radiological features, the extent of tissue removal ranges from simple curettage to an en bloc resection. We present an 8-year-old male patient, lack of any systemic disease or syndrome, complaining from painless swelling of the left posterior part of the mandible. In intraoral examination, a firm, expansive swelling with overlying intact mucosa, extending from mandibular primary canine to the distal portion of the left permanent first molar, was detected. A panoramic radiograph exhibited an ill-defined radiolucent lesion of 1.5 x 2 cm, extending from left permanent first molar to angulus mandibula and a well-defined, unilocular radiolucent lesion of 1 x 2 cm, extending from angulus to ramus mandibula on the asymptomatic right side. After the assessment of MRI, surgical removal was planned with the otorhinolaryngology department and lesions were totally removed under general anesthesia in two consecutive operation. Histopathologic examination revealed typical giant cell granuloma containing numerous multinucleated giant cells embedded in a fibrous stroma. In presenting this case we aimed to share occurrence of bilateral central giant cell granulomas of the mandible in the absence of hyperparathyroidism and associated syndromes, which is very rare in the literature.     

Metallic hip implants: CT with multiplanar reconstruction

Thirty consecutive patients with metallic implants in the hip were evaluated with both standard transaxial computed tomography (CT) and multiplanar reconstruction (MPR) to assess the contribution of MPR. The metallic devices included total hip replacements (n = 6), one or more surgical plates with screws (n = 9), acetabular pins or screws (n = 9), and Knowles pins (n = 6). The metallic implants were on the side of interest in 25 hips and in the contralateral hip in five cases. One patient had bilateral hardware. MPR reformats axially acquired data into other planes. The reconstruction program weights the true signal over the randomly distributed artifacts by integrating adjacent axial images. Examination using standard transaxial imaging was graded as excellent in five cases, adequate in 15 cases, and inadequate in ten cases. After MPR, 19 studies were classified as excellent, 11 were classified as adequate, and none were classified as inadequate. It is concluded that MPR significantly reduced artifacts caused by metal present in transaxial images.     

Diagnostic and therapeutic percutaneous gallbladder procedures

The authors report their experience with 24 patients who underwent a variety of percutaneous procedures involving the gallbladder. Twenty diagnostic and 13 therapeutic procedures were performed under sonographic, computed tomographic (CT), or fluoroscopic guidance; these procedures included biopsy of the gallbladder, diagnostic cholecystography, diagnostic aspiration of bile, gallstone dissolution and removal, cholecystostomy for drainage, and gallbladder abscess drainage. The indications for percutaneous cholecystostomy (performed in 11 patients) included relief of hydrops and empyema, gallstone dissolution, mechanical gallstone removal, and drainage for malignant obstruction. Each procedure was successful. There was one complicating episode of cholecystitis and four previously described episodes of vagal hypotension. Bile peritonitis did not occur in any of the patients. The authors discuss the various percutaneous gallbladder procedures and specific technical considerations in performing them.     

"It's hard to tell": The challenges of scoring patients on standardised outcome measures by multidisciplinary teams: a case study of neurorehabilitation

Background  

Interest is increasing in the application of standardised outcome measures in clinical practice. Measures designed for use in research may not be sufficiently precise to be used in monitoring individual patients. However, little is known about how clinicians and in particular, multidisciplinary teams, score patients using these measures. This paper explores the challenges faced by multidisciplinary teams in allocating scores on standardised outcome measures in clinical practice.     

Predictors of treatment failure for ectopic pregnancy treated with single-dose methotrexate

OBJECTIVE: To determine variables that predict treatment failure after methotrexate (MTX) treatment of ectopic pregnancy. DESIGN: Retrospective cohort study. SETTING: Canadian teaching hospital. PATIENT(S): Sixty patients diagnosed with and treated for ectopic pregnancy. INTERVENTION(S): A single dose of methotrexate (50 mg/m(2)) by i.m. injection. MAIN OUTCOME MEASURE(S): Resolution of serum beta-hCG or clinical evidence of treatment failure. RESULT(S): Treatment failure was observed following methotrexate administration in 65% of cases when initial beta-hCG was >4000 IU/L, but in only 7. 5% of patients when serum beta-hCG was <4000 IU/L (OR = 52.06, 95% CI 4.88-555.56). Patients who presented with pelvic pain without tenderness had treatment failure 56% of the time versus only 17% in those without pain (OR = 9.20, 95% CI 1.02-82.60). Treatment failure also occurred in 53% of patients presenting with vaginal bleeding versus 16% without bleeding (OR = 6.18, 95% CI 0.73-51.93). CONCLUSION(S): Methotrexate should not be used to treat ectopic pregnancy when initial beta-hCG is >4000 IU/L. Caution should also be exercised in using methotrexate for ectopic pregnancy when the patient presents with bleeding or pain even without tenderness.