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1.

Background

Solitary lateral cervical cystic mass is an uncommon presentation of papillary thyroid carcinoma.

Objectives

To report our recent experience in the diagnosis and management of papillary thyroid carcinoma presenting as a lateral neck cyst.

Methods

Patients who had papillary thyroid carcinoma and presented as a painless lateral neck cyst at the Department of Surgery, Al-Ain Hospital, from April 2005 to June 2009 were retrospectively studied. Their clinical presentation, diagnosis and management were reviewed.

Results

Five patients were studied. No thyroid nodules were clinically palpable in all patients. Fine needle aspiration cytology from the cyst was positive for papillary thyroid carcinoma in three patients (60 percent). Two patients were diagnosed after excisional biopsy. Three patients had total thyroidectomy with modified radical neck dissection and postoperative radioactive iodine ablation. Two patients preferred to travel overseas for treatment. Thyroid histopathological examination has shown papillary thyroid carcinoma in all operated patients with multiple microscopic foci in two of them. This was associated with multiple bilateral cervical lymph node involvement.

Conclusions

Metastatic papillary thyroid carcinoma presenting as a neck cyst is a diagnostic challenge. Excisional biopsy is indicated if fine needle aspiration cytology was inconclusive so as to rule out malignancy.  相似文献   

2.

Background

Spontaneous uterine rupture is a life threatening obstetrical emergency encountered infrequently in the emergency department. Its diagnosis is often missed or delayed, leading to maternal and fetal mortality.

Method

We present a case of ruptured uterus diagnosed by ultrasound in a 33-year-old gravid female with two previous cesarean sections.

Objective

To show the role of ultrasound in uterine rupture

Result

Ultrasound demonstrates uterine laceration and intra-abdominal dislocation of placenta and foetus

Conclusion

Because of the severity of the complication and the great variation of symptoms in connection with it, the authors encourage the use of ultrasound screening in the detection of this rare, but often catastrophic complication.  相似文献   

3.

Purpose

To investigate the ultrasonographic (US) features of anaplastic thyroid cancer (ATC) and the diagnostic performance of US-guided fine needle aspiration biopsy (FNAB) therein.

Materials and Methods

Eighteen cases of ATC diagnosed between January 2001 and May 2011 were included. FNAB was performed in all cases. Initial FNAB results were divided into three groups: 1) the cytological ATC group, cytological diagnosis of ATC; 2) the underestimated group, cytological diagnoses of malignancy other than ATC; and 3) the false negative group, cytological diagnoses of atypical, benign and non-diagnostic lesions. We retrospectively reviewed US findings and compared treatment modalities between each group.

Results

Among the 18 patients, there were nine in the initially cytological ATC group, four in the underestimated group and five in the false negative group. The most common US features of ATC were a solid (64.7%) and irregular shaped (88.2%) mass with lymph node involvement (76.4%). However, except for lymph node involvement (p=0.003), US findings for each group were not statistically different. The initial cytological diagnostic accuracy of ATC was 50% (9/18). Surgery was performed less in the ATC group (11%) and the false negative group (20%) than the underestimated group (75%).

Conclusion

The US features of ATC were not especially different from other types of aggressive thyroid cancer. A correct diagnosis of ATC by initial US-FNAB was made in 50% of the patients, which is significant in that therapeutic surgery can be undertaken in lower numbers if correctly diagnosed.  相似文献   

4.

Purpose

Metaplastic breast carcinoma (MBC) is rare. Its clinicopathologic features and prognosis are uncertain. The aim of this study was to evaluate the clinicopathologic characteristics and outcomes in comparison with invasive ductal carcinoma (IDC).

Materials and Methods

We reviewed the data of 29 patients with MBC and 4,851 patients with IDC, who received surgery at Yonsei University Severance Hospital between 1980 and 2008. Various clinicopathologic features, recurrence free, and overall survival were investigated and compared to each other.

Results

Stage IV cases at diagnosis were more common in MBC (10.3%) than in IDC (0.9%). The incidence rates of triple negative breast cancer (TNBC) were significantly higher in MBC (84.0%) than in IDC (20.1%). Larger tumors (>2 cm) and lower tendency of axillary metastasis were frequently observed in MBC. Only one of 24 preoperative core needle biopsies (CNB) correctly diagnosed MBC. There was no significant difference in survival between the two groups.

Conclusion

MBC was characterized by a higher incidence of TNBC, larger tumor size, and lower tendency of axillary metastasis, and was difficult to diagnose with CNB. Although the incidence of stage IV disease at diagnosis was higher in MBC, the survival rates of stage I-III were comparable to those of IDC.  相似文献   

5.

Purpose

To evaluate malignancy risk according to ultrasound (US) features and size change on follow-up US in mixed echoic thyroid nodules and to suggest management guidelines thereof.

Materials and Methods

Among patients who underwent US-guided fine needle aspiration biopsy, 316 mixed echoic nodules in 303 patients were included after excluding the patients with pure solid or cystic nodules or without further cytopathologic evaluation. We evaluated malignancy risk according to US features and changes in size and shape on follow-up US.

Results

The malignancy rate was 31.6% (6 of 19) for nodules with suspicious US features and 2.7% (8 of 297) for nodules without suspicious US features (p<0.001). Among 265 nodules with no suspicious US features and initial benign cytology, 15 nodules with suspicious US change and decreased size, 25 nodules with no suspicious US change and increased size, and 225 nodules with no suspicious US change and no change in size were observed on follow-up USs. The malignancy risk thereof was 0%, 0% and 0.4%, respectively (p=1.000).

Conclusion

Mixed echoic nodules with no suspicious US features and benign cytology can be followed up using US, as they revealed very low malignancy rates, even if they showed growth on follow-up US.  相似文献   

6.

Purpose

To assess the incidence of thyroid malignancy in an adult population screened by high-resolution ultrasonography at a medical screening center and to compare the clinical and pathological features of screen-detected thyroid carcinomas to symptomatic overt thyroid carcinomas.

Materials and Methods

We calculated the prevalence of screen-detected thyroid cancer at a medical screening center using high-resolution ultrasonography and fine needle aspiration. We then compared the clinical and pathological features of screen-detected thyroid cancers (n = 46) to clinical symptomatic thyroid cancers (n = 157). We evaluated age, gender, size, perithyroidal extension, lymphovascular extension, stage, histological lymph node metastasis, and the type of cancer. We also compared the above findings of micropapillary carcinomas to papillary thyroid carcinomas that were larger than 1 cm in diameter.

Results

Screen-detected thyroid nodule patients were 2,747 (37%) of 7,491 patients. Nodules selected for fine needle aspiration were 658 and cytology confirmed malignancy were 79 (12%) nodules. When screen-detected thyroid cancers (n = 46) were compared to symptomatic overt thyroid cancers (n = 157), only statistically significant factor was size (p = 0.002). Papillary thyroid carcinomas that were larger than 1 cm had more frequent capsular invasion (p = 0.000) and a higher stage (p = 0.027), and a higher prevalence of lymph node metastases (p = 0.002).

Conclusion

Screen-detected thyroid cancers should be managed as same as symptomatic thyroid cancers in respect to size, and an assessment should strictly be based on the ultrasound features and fine needle aspiration biopsy findings.  相似文献   

7.

Introduction

The aim was to examine the effect of a sedative or analgesic supplement to periprostatic nerve blockage (PNB) on pain reduction during probe insertion and needle penetration in patients undergoing transrectal ultrasound (TRUS)-guided prostate biopsy. We also investigated the effects of this procedure on the positive response rate in re-biopsy.

Material and methods

One hundred TRUS-guided prostate biopsy patients due to prostate-specific antigen (PSA) levels higher than 2.5 ng/ml and/or abnormal rectal examination findings were evaluated. Group 1 (PNB) was given periprostatic lidocaine injection before the procedure. Group 2 (analgesic) was given tramadol and PNB. Group 3 (sedative) was given midazolam and PNB. Group 4 (control) was not given any anaesthesia or analgesics. Pain scores were assessed during probe insertion and needle penetration by a visual analogue scale.

Results

During probe insertion, the mean pain score of the sedative group was lower than that of the control, analgesic and PNB groups (p < 0.001, p = 0.009, and p < 0.001, respectively). During needle penetration, the mean pain score of the control group was higher than that of the other groups (p < 0.001). The rate of positive response to re-biopsy was found to be 56% in the control group and between 92% and 100% in the other three groups (p < 0.001).

Conclusion

According to our results, it can be concluded that midazolam, given supplementary to PNB, contributes as an effective and safe alternative for pain control during both probe insertion and penetration of the biopsy needle into the prostate capsule; however, tramadol supplement does not provide any additional contributions.  相似文献   

8.

OBJECTIVES:

To evaluate the preliminary results obtained using diffusion-weighted magnetic resonance imaging and the apparent diffusion coefficient for planning computed tomography-guided biopsies of selected mediastinal lesions.

METHODS:

Eight patients with mediastinal lesions suspicious for malignancy were referred for computed tomography-guided biopsy. Diffusion-weighted magnetic resonance imaging and apparent diffusion coefficient measurement were performed to assist in biopsy planning with diffusion/computed tomography fused images. We selected mediastinal lesions that could provide discordant diagnoses depending on the biopsy site, including large heterogeneous masses, lesions associated with lung atelectasis or consolidation, lesions involving large mediastinal vessels and lesions for which the results of biopsy using other methods and histopathological examination were divergent from the clinical and radiological suspicion.

RESULTS:

In all cases, the biopsy needle was successfully directed to areas of higher signal intensity on diffusion-weighted sequences and the lowest apparent diffusion coefficient within the lesion (mean, 0.8 [range, 0.6–1.1]×10-3 mm2/s), suggesting high cellularity. All biopsies provided adequate material for specific histopathological diagnoses of four lymphomas, two sarcomas and two thymomas.

CONCLUSION:

Functional imaging tools, such as diffusion-weighted imaging and the apparent diffusion coefficient, are promising for implementation in noninvasive and imaging-guided procedures. However, additional studies are needed to confirm that mediastinal biopsy can be improved with these techniques.  相似文献   

9.

OBJECTIVE:

Computed tomography-guided percutaneous fine needle aspiration biopsy of lung lesions is a simple, safe and reproducible procedure. Currently, it is widely used to diagnose lung lesions. However, different factors can influence the success rates of this procedure. The purpose of this study was to determine the influence of radiological and procedural characteristics in predicting the success rates of computed tomography-guided fine needle aspiration biopsy of lung lesions.

SUBJECTS AND METHODS:

A retrospective study was developed and involved 340 patients who were submitted to a consecutive series of 362 computed tomography-guided fine needle aspiration biopsies of lung lesions, between July 1996 and June 2004, using 22-gauge needles (Chiba). Variables such as the radiological characteristics of the lesions, secondary pulmonary radiological findings, and procedural techniques were studied.

RESULTS:

For this study, 304 (84%) fine needle aspiration biopsies of lung lesions provided sufficient material for cytological evaluation. The variables that predicted sufficient material for cytological evaluation were lesions larger than 40 mm (p=0.02), lesions on the superior lung lobes (p=0.02), and suspicion of primary lung malignancy (p=0.03). From the multivariate analysis, the only predictive variable for success of the biopsies was localization on the superior lobes (p=0.01).

CONCLUSIONS:

Computed tomography-guided percutaneous fine needle aspiration biopsy of lung lesions showed greater rates of success in biopsies performed in patients with suspicion of primary lung malignancy, with lesions located in the superior lobes, and that have diameters equal to and larger than 40 mm.  相似文献   

10.

Background

Endoscopic ultrasound guided fine needle aspiration biopsy (EUS‐FNA) has proven to be an effective diagnostic modality for the detection and staging of pancreatic malignancies. In recent years EUS‐FNA has also been used to diagnose lesions of non‐pancreatic sites such as structures in close proximity to the gut wall within the mediastinum, abdomen, pelvis and retro‐peritoneum.

Aims

To evaluate experience with EUS‐FNA of non‐pancreatic sites at a large university medical centre.

Methods

The study cohort included 234 patients who underwent EUS‐FNA of 246 lesions in non‐pancreatic sites (122 peri‐pancreatic and coeliac lymph nodes; 9 peri‐pancreatic masses; other sites: mediastinum 12, gastric 25, liver 27, oesophagus 17, duodenum/colon/rectum 15, retro‐peritoneum 8, lung 7, miscellaneous 4).

Results

The cytology diagnoses were classified as non‐neoplastic/reactive in 82 (33%), atypical/suspicious for malignancy in 25 (10%), malignant in 86 (35%) and non‐diagnostic in 53 (22%) cases. Surgical pathology follow‐up was available in 75 (31%) cases. Excluding the non‐diagnostic cases there were 7 false negative and 3 false positive cases. The sensitivity, specificity and positive predictive value of EUS‐FNA in the diagnosis of lesions of non‐pancreatic sites was 92%, 98% and 97%, respectively.

Conclusions

EUS‐FNA can be effectively used as a diagnostic modality in the diagnosis of lesions from non‐pancreatic sites.  相似文献   

11.

Introduction

Isolated tuberculous epididymo-orchitis may closely mimic testicular tumour particularly in patients with no history of systemic TB thereby presenting a diagnostic and treatment challenges.

Case report

A 44-year old man presented with 4 months history of left scrotal mass and had left orchidectomy following a presumptive diagnosis of testicular tumour. Histopathological diagnosis of testicular tuberculosis was subsequently made. Although the patient was thereafter referred for antituberculosis treatment at the local tuberculosis treatment centre, he defaulted after commencing treatment.

Conclusion

Adequate evaluation of patients with testicular mass by means of abdominal and scrotal ultrasound coupled with fine needle aspiration cytology is critical to diagnostic accuracy, optimal treatment and possibility of avoiding surgery in those with testicular tuberculosis.  相似文献   

12.

Introduction

Transurethral, cystoscopically-guided needle core biopsy (TUcoreBxBT) seems to be a less invasive diagnostic method than transurethral resection (TURBT) offering a simple way to confirm cancer infiltration of the bladder. The aim of this study was to assess the technique of TUcoreBxBT in the diagnosis of bladder cancer infiltrating the detrusor muscle.

Material and methods

In every 96 pts the suspicion of invasive bladder cancer (IBC) was evaluated on the basis of radiological examinations, cystoscopy and bimanual examination. TUcoreBxBT were performed using a rigid cystoscope with a direct working channel and tru-cut automatic (COOK Quick-Core® Biopsy-Needle) 18 G/480 mm needle or self construction tru-cut 16 G/400 mm needle, adapted to work with a standard biopsy gun. At least three cores were taken in each patient, followed by regular TURBT.

Results

There were no complications of the bladder biopsy procedure. The average size of cores was 15 mm (8-17 mm). In every case TUcoreBxBT revealed muscle infiltration and was in agreement with all microscopic examinations of TURBT.

Conclusions

TUcoreBxBT in cases of clear suspicion of invasive bladder cancer is a simple, short and safe procedure which makes it possible to collect reliable material for microscopic examination. TUcoreBxBT is less invasive than standard TURBT only in diagnosis and staging of invasive tumours, and seems to be effective in selected cases to confirm malignancy before radical cystectomy.  相似文献   

13.

OBJECTIVE:

Distinct aspects can influence the complication rates of computed tomography‐guided percutaneous fine needle aspiration biopsy of lung lesions. The purpose of the current study is to determine the influence of radiological techniques and clinical characteristics in predicting complications from this procedure.

SUBJECTS AND METHODS:

A retrospective study was developed involving 340 patients who were submitted to a consecutive series of 362 computed tomography‐guided fine needle aspiration biopsies of lung lesions between July 1996 and June 2004, using 22‐gauge needles (CHIBA). Variables such as the radiological characteristics of the lesions, secondary pulmonary radiological findings, co‐morbidities, and aspects concerning the procedure were studied.

RESULTS:

The diameters of the lung lesions varied from 9 to 140 mm, with a mean of 51.5 ± 24.3 mm and median of 40 mm. The depth of the lesions varied from 10 mm to 130 mm, with a mean of 44 ± 20.9 mm, and median median of 52 mm. Complications occurred in 52 (14.4%) cases, pneumothorax being the most frequent, with 40 (11.1%) cases, followed by hemoptisis with 7 (1.9%) cases, and hematoma with 4 (1.1%) cases. Lesions that did not contact the pleura, with normal pulmonary tissue interposition between lesion and pleura, had higher complication rates, with 22 (22%) cases, than lesions that contact the pleura, with 6 (9%) cases, with a statistically significant difference (p  =  0.03).

CONCLUSIONS:

CT‐guided percutaneous fine needle aspiration biopsy of lung lesions had a lower rate of complications in our study and presented more rates of complications on lesions that lack pleural contact.  相似文献   

14.

Context:

Although originally manufactured for use in diagnostic imaging of internal structures, 2-cm-thick gel pads are also used as conducting media for therapeutic ultrasound over areas with bony prominences. Research on the ability of these pads to conduct enough energy to adequately heat tissues has provided mixed results. However, this research has mainly been performed on the triceps surae muscle, an area over which gel pads are not typically used. We wondered how much heating might be produced if a thinner pad was used over a tendon.

Objective:

To compare temperature rises in the human Achilles tendon during ultrasound treatments using ultrasound gel, a 2-cm-thick pad, and a 1-cm-thick pad.

Design:

Cross-sectional study.

Setting:

University therapeutic modality laboratory.

Patients or Other Participants:

Forty-eight healthy volunteers (24 women, 24 men).

Intervention(s):

We inserted a rigid thermocouple 1 cm deep into the Achilles tendon. Ultrasound was delivered at the following settings: 3 MHz, continuous, 1 W/cm2, 10 minutes.

Main Outcome Measure(s):

Temperature was recorded every 30 seconds for 10 minutes.

Results:

Temperature increased the most in the ultrasound gel group (increase  =  13.3°C, peak  =  42°C). The 1-cm-thick pad resulted in higher tendon temperature (increase  =  9.3°C, peak  =  37.8°C) than the 2-cm-thick pad (increase  =  6.5°C, peak  =  4.8°C). The 1-cm pad produced approximately 30% more heating than the 2-cm pad (SE  =  0.72, P < .03).

Conclusions:

The thinner pad transmitted ultrasound more efficiently than the thicker pad. Thus, a gel pad of less than 1-cm thickness might be useful for superficial areas, such as the hands and ankles.  相似文献   

15.

BACKGROUND:

Cases of H1N1 and other pulmonary infections evolve to acute respiratory failure and death when co‐infections or lung injury predominate over the immune response, thus requiring early diagnosis to improve treatment.

OBJECTIVE:

To perform a detailed histopathological analysis of the open lung biopsy specimens from five patients with ARDS with confirmed H1N1.

METHODS:

Lung specimens underwent microbiologic analysis, and examination by optical and electron microscopy. Immunophenotyping was used to characterize macrophages, natural killer, T and B cells, and expression of cytokines and iNOS.

RESULTS:

The pathological features observed were necrotizing bronchiolitis, diffuse alveolar damage, alveolar hemorrhage and abnormal immune response. Ultrastructural analysis showed viral‐like particles in all cases.

CONCLUSIONS:

Viral‐like particles can be successfully demonstrated in lung tissue by ultrastructural examination, without confirmation of the virus by RT‐PCR on nasopharyngeal aspirates. Bronchioles and epithelium, rather than endothelium, are probably the primary target of infection, and diffuse alveolar damage the consequence of the effect of airways obliteration and dysfunction on innate immunity, suggesting that treatment should be focused on epithelial repair.  相似文献   

16.

Background

Current UK melanoma guidelines do not support the initial diagnostic excision biopsy of pigmented lesions in primary care, although this is standard in other countries such as Australia. Previous research in Northeast Scotland found that initial diagnostic excision biopsies in primary care that prove to be melanoma were no more likely to be incomplete than those performed in secondary care, but data on longer-term outcomes were not available.

Aim

To determine whether initial diagnostic excision biopsy of cutaneous melanoma in primary versus secondary care leads to poorer survival and increased morbidity.

Design and setting

Analysis of a linked dataset comprising pathological data from melanoma cases diagnosed in Northeast Scotland between 1991 and 2007, the General Registry Office (Scotland) death registry, and an NHS Scotland episode of care database.

Method

Patient data from three sources were matched using the Community Health Index (CHI) number. Cox proportional hazards regression, with robust standard error estimates, was used to examine the hazard ratio (95% confidence interval) of key mortality and morbidity outcomes based on excision in primary versus secondary care. Analysis was conducted before and after adjustment for operator and patient-level factors, using a multilevel approach.

Results

Patients receiving their initial diagnostic excision biopsy for melanoma in primary versus secondary care were no more likely to be dead, or to have died of metastatic malignant melanoma. Patients who had their initial diagnostic excision biopsy for melanoma in primary care had significantly fewer subsequent hospital admissions and spent fewer days in hospital.

Conclusion

These findings suggest that initial diagnostic excision biopsy of melanoma in primary care does not lead to poorer long-term outcomes.  相似文献   

17.

Purpose

To analyze which sonographic features of thyroid nodules with macrocalcifications were predictable of thyroid malignancy.

Materials and Methods

We reviewed sonographic findings of 854 macrocalcified thyroid nodules in patients who underwent fine needle aspiration biopsy between December 2009 and January 2011. There were 171 non-diagnostic aspirations, 34 nodules with category 3, 4, 5 based on Bethesda system, which were not confirmed by surgery, and these nodules were excluded from the analysis. Sonographic characteristics of the macrocalcifications including its thickness, interruption, and existence of soft tissue rim outside the macrocalcification were analyzed. Other sonographic characteristics of nodules such as shape, margin, composition, echo pattern, vascularity, and underlying parenchymal echogenicity were also evaluated. The correlation of sonographic features with cytopathologic results and the diagnostic performance of sonographic features for the prediction of malignancy were analyzed.

Results

Among 649 nodules, 179 (27.6%) nodules were malignant and 470 (72.4%) nodules were benign. Among the features of the macrocalcification, interruption, irregular thickness, or the presence of soft tissue outside calcification rim were associated with malignancy (p<0.001). A high sensitivity and negative predictive values for the prediction of malignancy was found in sonographic characteristics of irregular thickness (92.2% and 91.0%, respectively) and the presence of soft tissue (88.5% and 88.8%, respectively).

Conclusion

Sonographic characteristics of macrocalcification such as interruption, irregular thickness and the presence of soft tissue rim were associated with malignancy in thyroid nodules with macrocalcifications.  相似文献   

18.

Background

Preoperative diagnosis has become the standard in breast cancer (BC) management. Recently, ultrasound guided core needle biopsy (CNB) and stereotactic needle core biopsy have replaced fine needle aspiration cytology. Epithelial cell displacement (DE) occurs frequently after core needle biopsy (CNB) for breast cancer diagnosis.

Aim

Systematically review (between 1900 and 2008) the clinical significance of DE after CNB in BC patients, and associated risk factors (delay between biopsy and surgery, needle passes, duration of the procedure, tumor size, histological type, tumor grade, margins, type of surgery, and of adjuvant treatment).

Materials and methods

We selected 15 studies: 9 assessed the rate of DE after CNB and 6 the impact of CNB on outcome endpoints.

Results

We found 3 prospective and 12 retrospective studies. However these had numerous biases such as insufficient power, confounding factors, selection of cases and controls, surrogate endpoints, heterogeneity of measured displacement. Malignant DE on surgical specimens occurred in 22% of the patients. A short interval between CNB and surgical excision increased the risk of detecting displaced cells. No increase in local recurrence was reported after CNB. Contradictory results were found in terms of sentinel node metastases. Only one study evaluated overall survival data and reported no worse survival in patients with preoperative CNB.

Conclusion

Although data are limited, no increased morbidity has been associated with iatrogenic seeding after CNB.  相似文献   

19.

Context:

Regaining full, active range of motion (AROM) after trauma to the wrist is difficult.

Objective:

To report the cases of 6 patients who lacked full range of motion (ROM) in the wrist due to trauma. The treatment regimen was thermal 3-MHz ultrasound and joint mobilizations.

Design:

Case series.

Setting:

University therapeutic modalities laboratory.

Patients or Other Participants:

Six patients (2 women, 4 men) from the university population lacked a mean AROM of 21.7° of flexion and 26.8° of extension approximately 2.1 years after trauma or surgery.

Main Outcome Measure(s):

I assessed changes in flexion and extension AROM before and after each treatment. Treatment consisted of 6 minutes of 3-MHz continuous ultrasound at an average intensity of 1.4 W/cm2 on the dorsal and volar aspects of the wrist, immediately followed by approximately 10 minutes of joint mobilizations. After posttreatment ROM was recorded, ice was applied to the area for about 20 minutes. Once the patient achieved full AROM or did not improve on 2 consecutive visits, he or she was discharged from the study.

Results:

By the sixth treatment, 5 participants achieved normal flexion AROM, and 3 exceeded the norm. All 6 achieved normal extension AROM, and 4 exceeded the norm. All returned to normal activities and normal use of their hands. One month later, they had, on average, maintained 93% of their final measurements.

Conclusions:

A combination of thermal ultrasound and joint mobilizations was effective in restoring AROM to wrists lacking ROM after injury or surgery.  相似文献   

20.

Background

The dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from mutations in the dystrophin gene. Duplication is an uncommon mechanism of mutation occurring in about 5% of DMD cases. The global prevalence of DMD is reported as 1/18,000 males. There is little clinical or epidemiological data on African patients.

Objective

To present the genotype-phenotype analysis of dystrophinopathy with an exon 8 through 9 duplication mutation in a patient of African/Ghanaian descent and his asymptomatic mother.

Methods

Investigations including a biopsy of the vastus lateralis muscle and genetic testing of the patient and his mother.

Results

Genetic testing demonstrated a duplication of exons 8 through 9 of the dystrophin gene in both the patient and his mother. The muscle biopsy of the patient showed partial expression of the dystrophin protein. In the absence of a family history of dystrophinopathy, we hypothesize that this is a sporadic mutation occurring in the grand maternal lineage.

Conclusion

This case extends the world wide epidemiology of this disease to include the African/Ghanaian population and confirms the vulnerability of the dystrophin gene to recurrent spontaneous mutations at the exon 8 and 9 site.  相似文献   

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