Tarsal-carpal coalition syndrome: importance of early diagnosis.
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ABSTRACT:
SUBMITTER: Lau GTY
PROVIDER: S-EPMC6557331 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Gardner's syndrome is an autosomal dominant disease caused by a mutation in the APC gene with 20–30% of cases presenting de novo. This entity is a variant of familial adenomatous polyposis, with a prevalence of 3/100,000 habitants. It may present as early as 2 months of age with a variety of both colonic and extracolonic symptoms. We report a case of a 21-year-old man, without any known family history, presenting with microcytic hypochromic anemia and constitutional symptoms for two months. Ultimately, after the etiological study, Gardner syndrome diagnosis was established as an index primary familiar case. Gardner syndrome is a clinical challenge which requires a prompt suspicion in order to reach its diagnosis. Given the malignant evolution of adenomas in 100% of untreated patients, early identification of extraintestinal manifestations (identifiable prior to colonic symptoms) is of the essence. A consequent endoscopic study to confirm gastrointestinal involvement is essential for a more favorable prognosis.
| S-EPMC7426784 | biostudies-literature
Project description:BackgroundTarsal coalitions are an important reason for foot pain in children. Early estimates placed the prevalence at up to 2%, while more recent data suggest that it is as high as 11% to 13%. To our knowledge, there have been no population-based studies to determine the true incidence of symptomatic tarsal coalitions in a pediatric population.MethodsA population-based database was used to identify all new diagnoses of symptomatic tarsal coalitions in children 18 years old or younger between 1966 and 2018. Patient records were reviewed for clinical data, and comparisons were made between the types and characteristics of the coalitions identified to determine differences in the affected populations. The annual age-specific, sex-specific, and type-specific incidence rates were estimated.ResultsDuring the study period, 58 patients with a total of 79 symptomatic tarsal coalitions were identified (annual incidence = 3.5 per 100,000 children). There were 43 calcaneonavicular (CN) coalitions (annual incidence = 1.9 per 100,000 children), 27 talocalcaneal (TC) coalitions (annual incidence = 1.2 per 100,000 children), as well as 9 other coalitions (7 talonavicular, 1 naviculocuboid, and 1 naviculocuneiform) (annual incidence = 0.4 per 100,000 children). The overall incidence peaked between the ages of 10 and 14 years for both boys and girls (8.1 per 100,000 and 7.4 per 100,000 children, respectively). Statistical differences were identified between the types of tarsal coalitions. TC coalitions present at an older age relative to CN and other coalitions (mean,13.9, 12.7, and 11.4 years, respectively; p = 0.02). While CN and TC coalitions were similar in composition (23% and 30%, respectively, were osseous as opposed to fibrocartilaginous), other coalitions were more likely to be osseous (78%) (p = 0.0035). Other coalitions were also less likely to require surgery than CN and TC coalitions (11%, 74%, and 56%, respectively; p = 0.0015).ConclusionsThis population-based study demonstrates differences in the clinical presentation of tarsal coalitions and provides an estimate of the true incidence of symptomatic tarsal coalitions in a pediatric population.
| S-EPMC8456776 | biostudies-literature
Project description:With the widespread use of high-resolution ultrasonography, ultrasonic examination has been shown to be useful as a diagnostic method for carpal tunnel syndrome. The main advantages of ultrasonography are that it is simple, quick, non-invasive, and economical. Another advantage is that tissue dynamics can be observed with real-time imaging. In recent reports, it has been shown that ultrasonic examination can provide similar diagnostic accuracy as nerve conduction study in the diagnosis of carpal tunnel syndrome. It has been expected that ultrasound demand in daily medical care will continue to increase. Ultrasonography in carpal tunnel syndrome shows an enlarged median nerve in proximal carpal tunnel, thickening of the flexor retinaculum, and edema around flexor tendons in cross-sectional images. In addition, with the introduction of new technologies such as ultrasonic elastography and speckle tracking, it has become possible to quantify dynamics and material property changes of nerves, tendons, and their surrounding structures. In this review, we describe recent advancements of carpal tunnel syndrome diagnosis based on ultrasound dynamic images, and discuss its pathology.
| S-EPMC7460039 | biostudies-literature
Project description:Early-onset carpal tunnel syndrome (CTS) is a well-known manifestation of mucopolysaccharidoses (MPS) due to excessive deposition of glycosaminoglycans in soft tissues. Standard treatment has been carpal tunnel release surgery, with the conventional technique of dividing the transverse carpal ligament. With advancement of treatments for MPS, these patients now have a longer life expectancy and are presenting with recurrent CTS. Management of recurrent CTS in these patients is not well studied. Here, we report 2 cases of recurrent CTS in MPS patients after a carpal tunnel release operation. We describe the findings on repeat operations and propose a unique technique for treating CTS in MPS patients to minimize recurrence during the initial CTS surgery. Our method involves resection of a portion of the transverse carpal ligament and use of a hypothenar fat pad flap over the median nerve.
| S-EPMC7972660 | biostudies-literature
Project description:Peripartum cardiomyopathy (PPCM) can lead to long-term systolic dysfunction, especially among black women. Hypertensive disorders of pregnancy (HDP) are the strongest risk factor for PPCM, but controversy remains on whether HDP predict a favorable outcome. Women with HDP are also often diagnosed with PPCM earlier than those without HDP. Our objective is to determine recovery of systolic function in patients with PPCM stratified by HDP, timing of diagnosis, and race. We conducted a retrospective cohort study of 220 patients (55% black) diagnosed with PPCM. Patients with PPCM and HDP were diagnosed earlier postpartum than patients without HDP (P=0.013), an effect that was most pronounced in nonblack patients. Rates of left ventricular ejection fraction (LVEF) recovery were similar among PPCM patients with and without HDP (68.4% versus 62.6%, P=0.425). In contrast, patients with PPCM diagnosed after 1-month postpartum had lower rates of LVEF recovery than patients diagnosed <1-month postpartum (53.7% versus 69.9%, P=0.035). LVEF at time of diagnosis is a strong predictor of LVEF recovery, and patients with PPCM diagnosed after 1-month postpartum had lower baseline LVEF compared to patients presenting earlier (P=0.041). The presence of HDP does not correlate with LVEF recovery in our racially diverse PPCM cohort. In contrast, early diagnosis portends a favorable outcome. Early diagnosis is associated with higher LVEF at presentation, likely explaining the improved outcomes in these women. These findings underscore the need for early monitoring and diagnosis, especially in at-risk and underserved populations.
| S-EPMC6906246 | biostudies-literature
Project description:ObjectiveTo investigate changes in the median nerve, retinaculum, and carpal tunnel on ultrasound after successful endoscopic carpal tunnel release (ECTR).Materials and methodsThis prospective study involved 37 wrists in 35 patients (5 male, 30 female; mean age ± standard deviation [SD], 56.9 ± 6.7 years) with primary carpal tunnel syndrome (CTS). An in-house developed scoring system (0-3) was used to gauge the clinical improvement after ECTR. Ultrasound was performed before ECTR, and at 1, 3, and 12 months post-ECTR. Changes in the median nerve, flexor retinaculum, and carpal tunnel morphology on ultrasound after ECTR were analyzed. Ultrasound parameters for different clinical improvement groups were compared.ResultsAll patients improved clinically after ECTR. The average clinical improvement score ± SD at 12 months post-ECTR was 2.2 ± 0.7. The median nerve cross-sectional area proximal and distal to the tunnel decreased at all time intervals post-ECTR but remained swollen compared to normal values. Serial changes in the median nerve caliber and retinacular bowing after ECTR were more pronounced at the tunnel outlet than at the tunnel inlet. The flexor retinaculum had reformed in 25 (68%) of 37 wrists after 12 months.ConclusionPostoperative changes in median nerve and retinaculum parameters were most pronounced at the tunnel outlet. Even in patients with clinical improvement after ECTR, nearly all ultrasound parameters remain abnormal at one year post-ECTR. These ultrasound parameters should not necessarily be relied upon to diagnose persistent CTS after ECTR.
| S-EPMC8236373 | biostudies-literature
Project description:IntroductionMucopolysaccharidoses (MPS) are rare and clinically heterogeneous lysosomal storage disorders. Carpal tunnel syndrome (CTS) is a frequent complication in MPS types I, II, VI, and VII. CTS symptoms are difficult to recognize in these children, and often there is a lack of appropriate investigations.Patients and methodsIn this retrospective study, all MPS patients were referred to the electrodiagnostic (EDX) laboratory of a single academic center during a 10-year period. Forty-eight children underwent serial EDX studies for CTS diagnosis and follow-up after surgery. Forty-two patients were diagnosed with CTS. Sensory nerve conduction velocity (SNCV), distal motor latency (DML), and motor nerve conduction velocity through the wrist (MNCV-W) of the median nerve were reviewed and analyzed.ResultsOne-hundred-three EDX examinations were performed on 48 patients. The median age at disease diagnosis was 2.1 years versus 4.9 years for CTS diagnosis. Analysis of the series revealed that electrophysiological abnormalities of CTS could have started much earlier (before the age of 2 years or at diagnosis of MPS). Diagnosis was based on SNCV and DML results, and MNCV-W was taken into consideration. Bilateral CTS was frequent (88%) in the types of MPS studied in our population and was observed from the first year of life, and may not have be associated with obvious clinical symptoms. EDX studies also helped in the follow-up and detection of CTS relapses, thus leading to an early intervention allowing a better recovery.ConclusionEDX studies should be performed promptly and regularly in these patients. Prospective studies are required in order to understand the effect of disease-specific therapies in preventing the development of CTS in these patients.SynopsisEDX studies should be performed in MPS patients soon after diagnosis and during routine follow-up, before and after surgical decompression.
| S-EPMC7169406 | biostudies-literature
Project description: Not available
| S-EPMC3414040 | biostudies-literature
Project description: Not available
| S-EPMC9969978 | biostudies-literature
Project description:BACKGROUND:The diagnostic accuracy of high-resolution ultrasonography (HRUS) in comparison to electro-diagnostic testing (EDX) in carpal tunnel syndrome (CTS) is debatable. OBJECTIVE:The aim of this study was to compare the diagnostic accuracy of HRUS with EDX in patients with various grades of CTS and CTS associated with peripheral neuropathy (CTS + PNP). MATERIALS AND METHODS:A prospective cohort of 57 patients with possible CTS was studied along with matched controls. The cross-sectional area (CSA) of the median nerve at the inlet of carpal tunnel was assessed by a sonologist blinded to the clinical and EDX data. Palm wrist distal sensory latency difference (PWDSLD), second lumbrical-interosseus distal motor latency difference (2LIDMLD) and CSA were compared in patients with different grades of severity of CTS and CTS+PNP. RESULTS:Total 92 hands of 57 patients met the clinical criteria for CTS. Mean CSA at the inlet of carpal tunnel was 0.11 ± 0.0275 cm(2). It had the sensitivity, specificity, positive predictive value and negative predictive values of 76.43%, 72.72%, 89.47% and 68%, respectively (P < 0.0001). Overall, HRUS had good correlation with PWDSLD and 2LIDMLD electro-diagnostic studies in all grades of CTS and CTS + PNP. CONCLUSION:HRUS can be used as a complementary screening tool to EDX. However, EDX has been found to be more sensitive and specific in mild CTS.
| S-EPMC4445201 | biostudies-other