scholarly journals Long-term outcome in a case series of Denys–Drash syndrome

2019 ◽  
Vol 12 (6) ◽  
pp. 836-839 ◽  
Author(s):  
Neus Roca ◽  
Marina Muñoz ◽  
Alejandro Cruz ◽  
Ramon Vilalta ◽  
Enrique Lara ◽  
...  
Keyword(s):  
Specific Treatment ◽  
Case Series ◽  
Published Data ◽  
Normal Female ◽  
Diffuse Mesangial Sclerosis ◽  
Wilms Tumour ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Drash Syndrome

Abstract Background Denys–Drash syndrome (DDS) is a rare disease caused by mutations in exons 8 and 9 of the WT1 gene. It is characterized by the association of early onset steroid-resistant nephrotic syndrome (SRNS), Wilms’ tumour and, in some patients, intersex disorders, with increasing risk of gonadoblastoma. There are few published data concerning the long-term outcome of patients with DDS. The aim of this study was to report our experience. Methods Data were collected from five children (three boys) with confirmed DDS diagnosed from 1996 to 2017. The mean follow-up of these patients was 16 years. Results The patients presented with SRNS and diffuse mesangial sclerosis at renal biopsy. All patients were hypertensive and progressed to end-stage kidney disease, initiating dialysis at a mean age of 28 months. Three patients developed Wilms’ tumour 9 months after the SRNS was identified, which was treated by nephrectomy and chemotherapy. All five patients received kidney transplantation. SRNS did not recur after transplantation in any of the patients and graft survival was similar to that of other kidney transplant recipients in our programme. All three boys had ambiguous genitalia and cryptorchidism but a confirmed male karyotype (46, XY). One girl presented with gonadal agenesis, whereas the other one had normal female ovarian tissue and external genitalia. Both girls had a female karyotype (46, XX). Gonadoblastoma was not observed at any case. Conclusions Early DDS recognition in patients with SRNS is crucial due to its low prevalence, the specific treatment approach required and early detection of Wilms’ tumour. Few data are available regarding long-term outcomes.

Primary Calvarial Ewing Sarcoma: A Case Series

2021 ◽  
Author(s):  
Sandeep Mohindra ◽  
Manjul Tripathi ◽  
Aman Batish ◽  
Ankur Kapoor ◽  
Ninad Ramesh Patil ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Tumor Resection ◽  
Case Series ◽  
Radical Excision ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Intradural Tumor ◽  
Age Range

Abstract Background Calvarial Ewing tumor is a relatively rare differential among bony neoplasms. We present our experience of managing primary calvarial Ewing sarcoma (EWS), highlighting their clinical and radiological findings. Method In a retrospective analysis, we evaluated our 12-year database for pathologically proven EWS. A literature search was conducted for the comparative presentation and update on the management and outcome. Result From January 2008 to December 2020, we managed eight patients (male:female = 5:3; age range 6 months to 19 years, mean 11.5 years) harboring primary calvarial EWS. All cases underwent wide local excision; two patients required intradural tumor resection, while one required rotation flap for scalp reconstruction. Mean hospital stay was 8 days. All patients received adjuvant chemo- and radiotherapy. Three patients remained asymptomatic at 5 years of follow-up, while two patients died. Conclusion Primary calvarial EWS is a rare entity. It usually affects patients in the first two decades of life. These tumors can be purely intracranial, causing raised intracranial pressure symptoms, which may exhibit rapidly enlarging subgaleal tumors with only cosmetic deformities or symptoms of both. Radical excision followed by adjuvant therapy may offer a favorable long-term outcome.

scholarly journals Long term outcome of combined phacoemulsification and excisional goniotomy with the Kahook Dual Blade in different subtypes of glaucoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ahmed Al Habash ◽  
Abdulrahman Albuainain
Keyword(s):  
Case Series ◽  
Angle Closure ◽  
Combined Surgery ◽  
Visual Rehabilitation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Kahook Dual Blade ◽  
Significant Cataract

AbstractTo characterize changes in intraocular pressure (IOP) and IOP-lowering medications through up to 2 years of follow-up in patients undergoing combined phacoemulsification and excisional goniotomy with the Kahook Dual Blade (phaco-KDB), with simultaneous goniosynechialysis in cases of angle-closure glaucoma. Prospective, non-comparative, interventional case series. Consecutive patients with medically-treated glaucoma and visually-significant cataract underwent combined surgery. Analysis was conducted on open-angle (OAG) and angle-closure (ACG) glaucoma groups separately. Thirty-seven patients with OAG (24 with primary OAG and 13 with pseudoexfoliation glaucoma) and 11 with ACG were enrolled. In OAG eyes, mean (standard error) baseline IOP was 21.1 (0.9) mmHg and through 24 months of follow-up was reduced by 6.4–7.7 mmHg (24.6–32.1%; p ≤ 0.0001 at all time points). In ACG eyes, mean baseline IOP was 20.8 (1.6) mmHg and was reduced by 6.1–8.77 mmHg (23.4–39.0%; p ≤ 0.0353). Mean medications were reduced by 61.9–89.1% (p ≤ 0.0001) in OAG eyes and by 56.3–87.3% (p ≤ 0.0004) in ACG eyes. Phaco-KDB significantly lowered IOP ~ 30% and medications by > 50% through 24 months. This combined procedure provides meaningful long-term reductions in IOP and need for IOP-lowering medication and does not adversely affect visual rehabilitation in eyes with cataract and glaucoma.

Long-term outcome of children undergoing surgery for suspected perilymph fistula

2008 ◽  
Vol 123 (3) ◽  
pp. 298-302 ◽  
Author(s):  
R J Sim ◽  
A H Jardine ◽  
E J Beckenham
Keyword(s):  
Hearing Loss ◽  
Case Series ◽  
Outcome Data ◽  
Rank Test ◽  
Short Term ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Signed Rank ◽  
Signed Rank Test

AbstractA number of authors have suggested that surgery for suspected perilymph fistula is effective in preventing deterioration of hearing and in improving hearing in some cases in the short term. We present long-term hearing outcome data from 35 children who underwent exploration for presumed perilymph fistula at The Children's Hospital, Sydney, Australia, between 1985 and 1992.Methods:The pre-operative audiological data (mean of 500, 1000, 2000 and 4000 Hz results) were compared with the most recently available data (range two to 15 years) and the six-month post-operative data.Results:The short-term results showed no significant change in hearing at six months, with a subsequent, statistically significant progression of hearing loss in both operated and non-operated ears (Wilcoxon signed rank test: operated ear, p < 0.017; non-operated ear, p < 0.009).Conclusion:In this case series, exploratory surgery for correction of suspected perilymph fistula did not prevent progression of long-term hearing loss.

Clinical characteristics and long-term outcome of lung lobe torsions in cats: a review of 10 cases (2000–2021)

2021 ◽  
pp. 1098612X2110548
Author(s):  
Catherine Tindale ◽  
Filippo Cinti ◽  
Matteo Cantatore ◽  
Alistair Freeman ◽  
Leonardo Cavaliere ◽  
...  
Keyword(s):  
Intraoperative Complications ◽  
Clinical Signs ◽  
Case Series ◽  
The Other ◽  
Complication Rates ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Lung Lobe ◽  
Lung Lobes

Case series summary Lung lobe torsion is rare in cats. The aim of this multi-institution retrospective study was to describe clinical and diagnostic findings, treatments and outcomes of lung lobe torsion (LLT) in 10 cats. Dyspnoea and tachypnoea were the most common clinical signs. Pleural effusion was present in nine cats at presentation. Fluid analysis confirmed chylothorax in three cats. Nine cats underwent CT and five cats had thoracic radiographs taken. A diagnosis was made preoperatively in six cats, while in the other four cats it was made at exploratory thoracotomy. Affected lung lobes were the right cranial (n = 4/11), left cranial (n = 4/11) and right middle (n = 3/11). One cat had a concurrent torsion of two lung lobes. Lung lobectomy was successfully performed in all cases. Based on clinical, diagnostic and lung histopathology findings, three cats had idiopathic and seven cats secondary LLT. Intraoperative complications included hypotension and hypothermia in four and five cats, respectively. Postoperative complications occurred in six cats and lead to euthanasia or death in four cats, whereas complications resolved in the other two cats. Three cats were euthanased within 5 weeks of discharge. For the three cats surviving long term, including one euthanased at 252 days postoperatively, owner-described outcomes and quality of life were considered good to excellent. Relevance and novel information Secondary LLT associated with underlying thoracic pathology was associated with high complication rates and poor outcomes. Long-term outcomes of cats undergoing surgery for LLT and surviving the perioperative period were deemed good to excellent.

LONG-TERM OUTCOME OF BRONCHIAL THERMOPLASTY IN ALLERGIC ASTHMA: A CASE SERIES

CHEST Journal ◽  
2019 ◽  
Vol 155 (4) ◽  
pp. 14A
Author(s):  
A. Alaga ◽  
E.L. Tan ◽  
M.K. Razul Mat Nazri ◽  
A.R. Jamalul Azizi
Keyword(s):  
Allergic Asthma ◽  
Case Series ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Bronchial Thermoplasty

scholarly journals Very High Sputum Cyanide Concentrations during Acute Pulmonary Exacerbations in Cystic Fibrosis Patients

2021 ◽  
Author(s):  
Daniel Guck ◽  
David Kim ◽  
Brian Logue ◽  
Nesta Bortey-Sam ◽  
Nicole Tubbs ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Specific Treatment ◽  
Mitochondrial Activity ◽  
Free Cyanide ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Data Support ◽  
Short And Long Term ◽  
Very High

Abstract Background: Cyanide (CN) has been shown to be chronically present in the airways of cystic fibrosis (CF) patients, as a byproduct Pseudomonas’ metabolism. We sought to determine the concentrations of CN in the sputum of CF patients, who were admitted to the hospital with acute clinical exacerbations using 2 different approaches. Methods: Sputum was collected within 1 day (median) of admission and immediately analyzed for the presence of total and free CN. Results: We found 1) toxic levels of CN in the sputum of our patients, ranging from 27 to 401 µM, 2) the majority of the cyanide was in the form of free, thus diffusible, CN and 3) no cyanide in the blood. Conclusions: While the chronic presence of CN in patients colonized with pseudomonas is not a new concept, the present data support the view that very high levels of free cyanide are present in the airways of CF patients during an acute clinical exacerbation, i.e. levels compatible with concentrations of CN able to virtually stop the mitochondrial activity. It becomes therefore urgent to investigate whether, in CF patients, cyanide is a significant factor affecting the short and long-term outcome and whether a specific treatment of CN intoxication of the airways is warranted during an exacerbation.

Arthroscopic treatment of fragmented coronoid process with severe elbow incongruity

2013 ◽  
Vol 26 (01) ◽  
pp. 27-33 ◽  
Author(s):  
E. de Bakker ◽  
D. Van Vynckt ◽  
E. Coppieters ◽  
H. van Bree ◽  
B. Van Ryssen ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Case Series ◽  
Term Treatment ◽  
Coronoid Process ◽  
Heavy Exercise ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Long Term Treatment

SummaryThe purpose of this study was to investigate the long-term treatment results of fragmented coronoid process (FCP) in joints with a radio-ulnar step greater than 3 mm. Treatment of these patients only consisted of fragment removal, without correction of the incongruity.The eight Bernese Mountain Dogs (11 joints) included in this study showed obvious clinical signs of elbow disease and were diagnosed with severe elbow incongruity and concomitant FCP in the time period from 1999–2003. At that time, elbow radiography, computed tomography, and arthroscopy were performed. The mean follow-up period was 5.6 years. The follow-up consisted of a telephone questionnaire combined with a clinical and radiographic re-evaluation at our clinic.The questionnaire revealed that all dogs were either free of lameness or only lame following heavy exercise. One dog sporadically required medication after heavy exercise. The owner satisfaction rate was 100%. The clinical re-evaluation did not reveal any signs of pain or lameness in all cases. Range-of- motion was decreased in nine of the 11 elbows. Radiographs revealed an increase in severity of osteoarthritis in every case.In this case series, arthroscopic fragment removal without treatment of incongruity was demonstrated to be a valuable treatment option and may provide a satisfactory long-term outcome.

Complex basilar artery aneurysms treated using surgical basilar occlusion: a modern case series

2011 ◽  
Vol 115 (2) ◽  
pp. 319-327 ◽  
Author(s):  
Christopher P. Kellner ◽  
Raqeeb M. Haque ◽  
Philip M. Meyers ◽  
Sean D. Lavine ◽  
E. Sander Connolly ◽  
...  
Keyword(s):  
Basilar Artery ◽  
Case Series ◽  
Endovascular Techniques ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Complex Aneurysms ◽  
Long Term Follow Up ◽  
Clinical Records

Object Complex aneurysms of the basilar artery (BA) apex can be successfully treated using surgical occlusion of the proximal BA. Since the introduction of the Guglielmi detachable coil in 1991, the focus on treating BA aneurysms has been on using endovascular techniques. Outcomes with endovascular techniques have been less than optimal for large and complex aneurysms. The authors therefore report on their current 22-year experience with surgical BA occlusion for complex BA aneurysms and long-term outcome. Methods Fifteen patients underwent surgical BA occlusion at Columbia University Medical Center for complex basilar apex aneurysms between 1987 and 2009. The clinical records of each patient were reviewed for details of presentation, hospital course, operative intervention, and outcome. Results Postoperatively, all patient encounters were recorded at discharge, at the 1-month and 1-year follow-up evaluations, and at long-term outcome. Twelve (80%) of 15 patients experienced no new postoperative neurological deficits. Three patients presenting with severe neurological impairment (modified Rankin Scale [mRS] score > 3) made excellent recoveries (mRS Scores 1–2) at long-term follow-up. One patient died, 1 suffered a stroke during the postoperative angiogram which resulted in hemiparesis, and 1 suffered internuclear ophthalmoplegia which resolved by the 1-month follow-up. Long-term follow-up occurred at an average of 3 ± 4.5 years, ranging from 2 months (for a recently treated patient) to 18 years. The average mRS score at long-term follow-up was 1 ± 1.5. No patient experienced postoperative hemorrhage, rebleeding, or delayed neurological deterioration. Conclusions Surgical occlusion of the BA is an effective treatment option offering a high rate of angiographic cure in a single procedure for patients with complex BA aneurysms. The ability to surgically perform point occlusion of the BA without impairment of brainstem perforators, while maintaining collateral blood flow to the posterior circulation branch vessels, may provide an advantage compared with endovascular treatments.

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