Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment

Background

We have recently shown that human epididymis protein 4 (HE4) levels correlate with the severity of cystic fibrosis (CF) lung disease. However, there are no data on how HE4 levels alter in patients receiving CFTR modulating therapy.

Intradiscal Thermal Annuloplasty for Discogenic Pain: An Outcome Study

Objectives: Published studies of intradiscal thermal annuloplasty (IDTA) have shown at most 50% pain relief as an improved outcome with little focus on functional improvement in the treatment of discogenic pain. Previous studies have used a number of criteria for patient selection including low back pain unresponsive to conservative care, no compressive radiculopathy, positive provocative discography and absence of previous surgery at the same symptomatic level. The purpose of present study is to examine the hypothesis that additional inclusion criteria for patient selection such as disc height, absence of degenerative disc disease (DDD) in untreated discs, absence of herniated nucleus pulposus or lumbar canal stenosis may improve the outcome of treatment. Methods: In this prospective case‐series study additional criteria of patient selection were introduced, namely disc height of at least 50%, no lumbar canal stenosis, one or two levels of DDD, no evidence of nucleus pulposus herniation on magnetic resonance image. Thirty‐four patients were enrolled in the study and 32 of them were followed over a period of 12 months. The visual analog scale (VAS) pain score and seven activities of daily living (ADLs) were followed and reported on a scale from 0 to 10. Results: Sustained decrease of the VAS pain scores was observed from 3 to 12 months following IDTA. ADLs improved in all patients between 3 and 12 months post‐treatment. Patients in the Bureau of Workers Compensation (BWC) group had a higher VAS score but showed the same level of improvement in ADLs as compared to commercial insurance or self‐pay patients. In the non‐BWC patient group an average VAS pain score decrease of more than 6 points on a 10‐point scale was reported at 6 to 12 months following IDTA. Conclusions: We found dramatic improvement of pain scores and ADLs following IDTA when strict patient selection was applied. We believe that IDTA is an effective, minimally invasive treatment for discogenic pain in properly selected patients.     

股骨干骨折--扩髓和不扩髓髓内钉比较

治疗股骨干骨折，采用不扩髓髓内钉比扩髓髓内钉手术时间明显缩短，而且失血也少。但是，扩髓钉的骨愈合更快，延迟愈合更少。两者都没有显著增加包括肺损害等其它并发症的风险。功能结果不能确定。     

Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial cerebrovascular disorder shown to map to chromosome 19q12. Familial hemiplegic migraine has also been shown in some families to map close to the CADASIL locus. The fully developed CADASIL phenotype consists of recurrent strokes developing in the fourth decade, progressing to a pseudobulbar palsy, spastic quadriparesis, and subcortical dementia. In an Irish family 15 members were fully investigated by magnetic resonance scanning; 10 had typical magnetic resonance features of CADASIL. Five members of this family had familial hemiplegic migraine and 4 of these had magnetic resonance evidence of CADASIL. Two other members had migraine with and without aura as a presenting clinical symptom of CADASIL. This disorder has been shown by linkage analysis to map to the CADASIL locus at chromosome 19. The phenotype at presentation of CADASIL in this family was variable and age related and included familial hemiplegic migraine, migraine with and without aura, transient ischemic attacks, strokes, and spinal cord infarction. This family study increases our understanding of the spectrum of clinical manifestations of this underrecognized familial cerebrovascular disorder.     

Palliative treatment of advanced colorectal carcinoma with the YAG laser.

The Nd-YAG laser was used to provide palliative treatment for eight patients (two women and six men), ranging in age from 53 to 76 years, who had locally advanced colorectal cancer. The main indications for treatment were obstruction, bleeding and copious rectal mucus discharge. Only one complication, a Staphylococcus aureus infection, followed the treatment; the infection was easily controlled. The laser treatment was considered to ease the symptoms in five patients, but survival was not influenced by the treatment. This form of palliation must be evaluated in larger numbers of patients to assess its real value in advanced colorectal cancer.     

Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

Abstract Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a trinucleotide repeatexpansion, cytosine-thymine-guanine (CTG)_n, in the 3′ untranslated region of a gene encoding the myotonic dystrophy protein kinase (DMPK). To correlate CTG expansion and protein expression, we studied muscle specimens from 16 adult DM1 patients using three anti-DMPK antibodies for immunoblotting. We estimated the amount of the full-length DMPK (85 kDa) in muscle biopsies from normal controls and from DM1 patients carrying different (CTG)_n expansions. We found that DMPK concentration was decreased to about 50% in DM patients’ muscles; the protein decrease did not seem correlated with the CTG repeat length. However, the fibre type composition in skeletal muscle seemed somehow to affect DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre.     

Über die Technik der Milzpunktion und über Ihren Diagnostischen Wert

Ohne Zusammenfassung