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11.
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy 总被引:3,自引:4,他引:3
Milasin J; Muntoni F; Severini GM; Bartoloni L; Vatta M; Krajinovic M; Mateddu A; Angelini C; Camerini F; Falaschi A; Mestroni L; Giacca M 《Human molecular genetics》1996,5(1):73-79
X-linked dilated cardiomyopathy (XLDC) is a familial heart disease
presenting in young males as a rapidly progressive congestive heart
failure, without clinical signs of skeletal myopathy. This condition has
recently been linked to the dystrophin gene in some families and deletions
encompassing the genomic region coding for the first muscle exon have been
detected. In order to identify the defect responsible for this disease at
the molecular level and to understand the reasons for the selective heart
involvement, a family with a severe form of XLDC was studied. In the
affected members, no deletions of the dystrophin gene were observed.
Analysis of the muscle promoter, first exon and intron regions revealed the
presence of a single point mutation at the first exon-intron boundary,
inactivating the universally conserved 5' splice site consensus sequence of
the first intron. This mutation introduced a new restriction site for MseI,
which cosegregates with the disease in the analyzed family. Expression of
the major dystrophin mRNA isoforms (from the muscle-, brain- and Purkinje
cell-promoters) was completely abolished in the myocardium, while the
brain- and Purkinje cell- (but not the muscle-) isoforms were detectable in
the skeletal muscle. Immunocytochemical studies with anti- dystrophin
antibodies showed that the protein was reduced in quantity but normally
distributed in the skeletal muscle, while it was undetectable in the
cardiac muscle. These findings indicate that expression of the muscle
dystrophin isoform is critical for myocardial function and suggest that
selective heart involvement in dystrophin- linked dilated cardiomyopathy is
related to the absence, in the heart, of a compensatory expression of
dystrophin from alternative promoters.
相似文献
12.
Eva M. Hoefnagels Lucas Weerheijm Angelique GM Witteveen Jan-Willem K Louwerens Noel Keijsers 《Foot and Ankle Surgery》2021,27(5):543-549
BackgroundThe aetiology of chronic therapy resistant plantar fasciitis (CTRPF) is multifactorial with more focus in recent times on the gastroc-soleus complex. This study evaluates the effect of lengthening the gastrocnemius muscle in CTRPF.MethodsAll patients with CRTPF complaints for at least one year underwent the same standard conservative treatment prior to surgery. 32 patients failed this treatment and underwent gastrocnemius recession. Silfverskiöld test, questionnaires and plantar pressure measurements were obtained at 5 visits.ResultsOne year follow up showed a significantly increase in dorsiflexion of the ankle (16 degrees), a decrease in VAS; 78 (SD: 19) to 20 (SD: 24) and significant improved functional scores. Plantar pressure measurements showed an increase of pressure under the medial proximal part of the midfoot and the 1 st metatarsal and a decrease under the hallux.ConclusionsA gastrocnemius recession results in a significant gain in dorsiflexion, altered loading of the foot and good clinical outcome in patients with CTRPF.Level of EvidenceLevel 2 相似文献
13.
Lorente Nicolas Sherriff Nigel Panochenko Oksana Marcus Ulrich Dutarte Maria Kuske Matthias Aussó Susanna Huber Jörg Krone Michael Schink Susanne Barbara Cawley Caoimhe Casabona Jordi Folch Cinta 《Journal of community health》2021,46(3):545-556
Journal of Community Health - Little is known about Community Health Workers (CHWs) who work in non-clinical settings to provide sexual health support around HIV, viral hepatitis, and other... 相似文献
14.
J. L. Quesada J. Lorente Pedro Quesada 《European archives of oto-rhino-laryngology》2000,257(7):386-388
Globus pharyngeus is a relatively common complaint in an ear, nose, and throat consulting room and may account for 3–4% of
outpatient referrals. The cause is still unknown, although a number of hypotheses have been suggested. Between 40% and 75%
of the patients remain symptomatic despite any treatment regimen. Thirteen patients from a group of 124 with the diagnosis
of globus pharyngeus and no response to medical treatment were treated with partial epiglottectomies. One year after the surgery
all but one patient were free of symptoms. Our experience indicates that partial epiglottectomy can be a good treatment for
those patients with globus pharyngeus in whom no cause is found after all studies are performed or when medical treatment
fails.
Received: 19 October 1999 / Accepted: 16 December 1999 相似文献
15.
López Morante A Sáez-Royuela F Echevarría C Llanos C Martín Lorente JL Yuguero del Moral L Ojeda Giménez C 《Gastroenterologia y hepatologia》1995,18(4):165-168
A prospective study in which the existence of iron metabolism alterations (increase in the serum levels of iron and ferritin and the presence of iron in liver tissue) in a group of 53 patients diagnosed with chronic anti-HCV positive hepatitis was performed. The aim of the study was to determine whether these parameters influence the response to interferon treatment. Elevations were observed in the serum levels of iron and/or ferritin in 17 (32%) of the patients. Higher than normal values of serum iron or ferritin in pretreatment analyses were associated with worse therapeutic response. The basal serum levels of iron and ferritin were significantly higher in non responding patients. No relationship was found between the presence of iron in the hepatic parenchyma and response to interferon treatment. 相似文献
16.
van Kranen HJ; van Iersel PW; Rijnkels JM; Beems DB; Alink GM; van Kreijl CF 《Carcinogenesis》1998,19(9):1597-1601
The variation in colorectal cancer (CRC) incidence worldwide strongly
suggests a role for dietary influences. Based on epidemiological data,
protective effects of vegetables and fruit intake on CRC are widely
claimed, while other data indicate a possible increased CRC risk from
(higher) dietary fat intake. Therefore, we have investigated single and
interactive effects of dietary fat and a vegetable-fruit mixture (VFM) in
the ApcMin mouse, a mouse model for multiple intestinal neoplasia. In this
study, four different diets (A-D) were compared, which were either low in
fat (20% energy diets A/B) or high in fat (40% energy diets C/D). In
addition, 19.5% (wt/wt) of the carbohydrates in diets B and D were replaced
by a freeze-dried VFM. The diets were balanced so that they only differed
among each other in fat/carbohydrate content and the presence of specific
plant-constituents. Because the initiation of intestinal tumors in ApcMin
mice occurs relatively early in life, exposure to the diets was started in
utero. Without the addition of VFM, mice maintained at a high-fat diet did
not develop significantly higher numbers of small or large intestinal
adenomas than mice maintained at a low-fat diet. VFM added to a low-fat
diet significantly lowered multiplicity of small intestinal polyps (from
16.2 to 10.2/mouse, 15 animals/group), but not of colon tumors in male
ApcMin mice only. Strikingly, addition of VFM to female mice maintained on
a low-fat diet and to both sexes maintained on a high-fat diet
significantly enhanced intestinal polyp multiplicity (from 16.5 to 26.7
polyps/mouse). In conclusion, our results indicate that neither a lower fat
intake nor consumption of VFM included in a high-fat diet decreases the
development of polyps in mice genetically predisposed to intestinal tumor
development.
相似文献
17.
18.
Postbiopsy renal transplant arteriovenous fistulas: color Doppler US characteristics 总被引:3,自引:0,他引:3
Color Doppler ultrasound (US) with point-spectral analysis was performed on eight patients with postbiopsy renal transplant arteriovenous fistulas. Waveform analysis of the supplying artery documented decreased resistive indices in all cases and increased flow velocities in seven. The peak-systolic flow velocity in the arteries supplying the fistulas ranged from 55 to 180 cm/sec (mean, 92 cm/sec), while the range in normal arteries was 20-52 cm/sec (mean, 32 cm/sec). The resistive indices of the arteries supplying the fistulas ranged from 0.31 to 0.50 (mean, 0.45), while the resistive indices of the normal arteries ranged from 0.60 to 0.92 (mean, 0.74). Arterialization of the venous waveform from the draining vein was also documented in all cases. In six cases, the increased flow velocities resulted in increased color saturation toward white in the supplying artery (n = 2) or in both the artery and the draining vein (n = 4), which was detectable on the realtime image. In six cases, flow turbulence resulted in localized tissue vibration, which appeared as random color assignment in extravascular renal parenchyma adjacent to the fistula. Knowledge of these imaging and Doppler characteristics should aid in the identification of renal transplant arteriovenous fistulas with color Doppler US. 相似文献
19.
Chronic pancreatitis: ultrasonic features 总被引:2,自引:0,他引:2
A retrospective analysis of 84 ultrasound examinations (in 77 patients) was performed to assess the frequency of sonographic findings in chronic pancreatitis. The findings included: inhomogeneously increased echogenicity in 53% of these examinations, focal or diffuse enlargement in 41%, focal dense echoes in 40%, pseudocyst formation in 21%, and a hypoechoic head mass in 7%. Thirteen per cent of our patients had a normal sonogram. Several presentations of chronic pancreatitis not previously described in the sonographic literature included: pancreatic or common bile duct enlargement or pseudocyst formation with otherwise normal-appearing glands. There was no direct relationship between the presence of focal high-intensity echoes within the pancreatic parenchyma and the presence of radiographic calcification. There was no difference in the frequency of ultrasonic abnormalities between patients with and without clinical evidence of pancreatic insufficiency. These results indicate that the sonographic findings in chronic pancreatitis are significantly more varied than previous reports would indicate. 相似文献
20.