scholarly journals Clinical Spectrum Of CACNA1C Variants, Revisited

2020 ◽  
Author(s):  
Anwar Baban ◽  
Bernadette Corica ◽  
Maria Gnazzo ◽  
Federica Calì ◽  
Nicoletta Cantarutti ◽  
...  
Keyword(s):  
Independent Risk Factor ◽  
Heart Defects ◽  
Disease Recurrence ◽  
Long Term Results ◽  
Phenotype Correlation ◽  
Phenotypic Analysis ◽  
Gene Encoding ◽  
Pathogenic Variants ◽  
Qt Syndrome

Abstract Background CACNA1C is a gene encoding the CaV1.2 calcium channel and several cardiac conditions are potentially associated with pathogenic variants in this gene. The aim of this study is to explore genotype-phenotype correlations related to CACNA1C ever described variants and vast phenotypic spectrum.MethodsWe analyzed 102 patients with CACNA1C variants (CACNA1Cv) (9 our cohort and 93 from literature). We studied the association between CACNA1Cv and clinical parameters: arrhythmias, structural heart defects, cardiomyopathy and survival. We followed the American College Medical Genetics (ACMG) scoring system to grade variants’ pathogenicity and their domains.Results CACNA1Cvwith high ACMG scores were associated with higher mortality than variants with lower scores (p < 0.001). CACNA1Cv in Cytoplasmic and Transmembrane domains were associated with higher mortality than other domains (p = 0.005). Multivariate analysis for higher ACMG scores, indicates cardiomyopathy and a lesser extent domain, as independent risk factor for mortality (p = 0.031 and p = 0.04). Cytoplasmic domain variants were frequently associated with long-QT syndrome; C-terminal variants were often linked to Brugada syndrome. Parental mosaicism was relatively high (4–5%) and must not be overlooked in parents’ phenotypic analysis and in calculation of disease recurrence riskConclusionTo the best of our knowledge, this is the first study trying to create genotype-phenotype correlation and better risk stratification in CACNA1Cv in relation to survival and long-term results.

The use of Dimexide in the complex treatment of Peyronie's disease

1980 ◽  
Vol 61 (6) ◽  
pp. 53-54
Author(s):  
M. G. Muhamadeev ◽  
M. P. Trofimova
Keyword(s):  
Clinical Manifestations ◽  
Disease Recurrence ◽  
Peyronie’S Disease ◽  
Long Term Results ◽  
Complex Treatment ◽  
Results Of Treatment ◽  
Peyronie's Disease

We observed 9 patients with plastic induration of the penis (Peyronie's disease), 3 of them interrupted treatment. Long-term results of treatment were traced in 6 patients (age - from 48 to 60 years): in 5 patients, complaints and clinical manifestations of disease recurrence were not noted for 2-4 years.

scholarly journals LONG-TERM RESULTS FOR THE TREATMENT OF PATIENTS WITH THE APPLICATION OF ORGAN-PRESERVING OPERATIONS IN PAPILARY THYROID CANCER

2018 ◽  
Keyword(s):  
Thyroid Cancer ◽  
Side Effects ◽  
Replacement Therapy ◽  
Functional Results ◽  
Disease Recurrence ◽  
Main Group ◽  
Long Term Results ◽  
Thyroid Secretion

Іn order to analyse the changes in the structural and functional state of the thyroid gland, a group of 185 patients (67.8 %) were examined after the surgical treatment of papillary thyroid cancer. Of these, 94 patients belonged to the first group – the comparison group where thyroidectomy was performed, and 91 to the second – the main group where, mainly, organ-preserving operations were performed. The average follow-up was 6.5 ± 5.1 years (varied from 2 to 11 years. Hypoparathyroidism in patients receiving replacement therapy was observed in 20 (16.4 %) patients after thyroidectomy and only in 4 (6.3 %) patients after organ-preserving techniques (the differences are significant, p < 0.05). Side effects of replacement therapy were observed in 21 (17.2 %) patients after thyroidectomy and only in 4 (6.3 %) patients after organ-preserving techniques (the differences are significant, p < 0.05). Disease recurrence was detected in 4 (3.3 %) patients after thyroidectomy and in 1 (1.6 %) patient after organ-preserving techniques (the differences are not significant, р > 0.05). The use of organ-preserving approaches in the main group allowed improving functional results by reducing the frequency of hypothyroidism and side effects of replacement therapy, due to the preservation of thyroid secretion and its regulation, without worsening the results of relapse-free survival.

Right axillary minithoracotomy: An alternative access to close an ASD

2021 ◽  
Keyword(s):  
Heart Defects ◽  
Median Sternotomy ◽  
Long Term Results ◽  
Special Equipment ◽  
Vertical Incision ◽  
Midaxillary Line ◽  
Muscle Sparing ◽  
The Right ◽  
Midline Sternotomy

A vertical right axillary thoracotomy is a favorable alternative to a median sternotomy for surgical correction of common congenital heart defects in patients of all ages. The right-sided heart structures can be approached through a 4- to 5-cm vertical incision in the midaxillary line. In contrast to a midline sternotomy, osseous thoracic structures can be preserved through a muscle-sparing approach simply by retracting the ribs. Consequently, recovery is usually faster, and the resulting scar is completely hidden under the resting arm. In addition, there is no need for special equipment. The entire operation can be performed with established techniques. Operative outcome and long-term results have been shown by several research groups to be comparable to those obtained with a median sternotomy. This tutorial demonstrates the stepwise performance of an axillary thoracotomy and the extracorporeal circulation setup by the example of the closure of an atrial septal defect.

Effect of PET-CT on disease recurrence and its management in patients with potentially resectable colorectal cancer liver metastases: The long-term results of a randomized control trial.

2018 ◽  
Vol 36 (4_suppl) ◽  
pp. 562-562
Author(s):  
Pablo Emilio Serrano Aybar ◽  
Chu-Shu Gu ◽  
Mohamed Husien ◽  
Diederick Jalink ◽  
Guillaume Martel ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Liver Metastases ◽  
Surgical Management ◽  
Disease Recurrence ◽  
Long Term Results ◽  
Colorectal Cancer Liver Metastases ◽  
Pet Ct ◽  
Risks Factors

562 Background: The PETCAM randomized trial evaluated the effect of preoperative PET-CT (vs. no PET-CT) on surgical management in patients with colorectal cancer liver metastases. In this study, 8% of patients had a change in surgical management, including a higher proportion of major liver resections in the PET-CT arm. The current study compares the intervention groups for 5-year disease free (DFS) and overall survival (OS), and evaluated their long-term clinical course, i.e. sites of recurrence and management of disease recurrence. Methods: Recruitment to the trial occurred between 2005-2010, with last follow-up in 2013. Data on recurrence, management of recurrence and mortality from 2013-2017 was collected from patient’s charts. Recurrences according to site and management were described. Cox proportional Hazard Models were used to calculate the risk for recurrence and death. OS was calculated with Kaplan-Meir method and compared with log-rank test. Results: At 5 years, 157 of 404 (39%) patients were still alive and 19 patients were lost to follow-up. Median follow-up is 4.2 years. There were no differences in DFS (HR: 1.12, 95%CI: 0.88-1.42) or OS (HR: 0.97, 95%CI: 0.74-1.28) between groups. The median DFS for the 372 patients who had surgery was 17 months, 95%CI: 14.7-19.4. Risks factors for recurrence were: extrahepatic disease, liver tumour size, and nodal stage. The median OS for all patients was 50 months, 95%CI: 43.5-64.3. Risks factors for death also included age and prior use of chemotherapy. During the follow-up period, 287/404, 71% patients recurred (mostly liver and lung); 137 (48%) were treated solely with chemotherapy and 35% were treated with surgery with curative intent. Of these, the majority recurred (109/116, 94%). The median OS following first recurrence was 27.5 months, 95%CI: 23-30. Conclusions: PET-CT did not improve DFS or OS. Survival following liver resection is similar to previous reports, however most patients experience disease recurrence. A substantial proportion of patients who recur undergo surgery, however it is likely that they will recur again.

scholarly journals Transsphenoidal Microsurgery for Growth Hormone-Secreting Pituitary Adenomas: Initial Outcome and Long-Term Results

1998 ◽  
Vol 83 (10) ◽  
pp. 3411-3418 ◽  
Author(s):  
Aviva Abosch ◽  
J. Blake Tyrrell ◽  
Kathleen R. Lamborn ◽  
Lisa T. Hannegan ◽  
Carol B. Applebury ◽  
...  
Keyword(s):  
Sella Turcica ◽  
Treatment Strategies ◽  
Disease Recurrence ◽  
Mortality Rates ◽  
Long Term Results ◽  
Long Term Effect ◽  
Transsphenoidal Microsurgery ◽  
Long Term Follow Up ◽  
Cerebrospinal Fluid Leaks

Treatment of acromegaly has long been recognized as necessary to relieve symptoms, halt progression of deformities, and decompress the sella turcica. More recently, treatment strategies have focused on decreasing GH levels to a point at which mortality rates normalize, thereby redefining previous concepts of a cure. No surgical series to date has investigated the long-term effect of treatment on mortality rates. We retrospectively reviewed 254 consecutive patients with acromegaly who underwent transsphenoidal microsurgery of GH-secreting adenomas between 1974–1992. Seventy-six percent of these patients had basal GH levels &lt;5 ng/mL within 30 days of surgery, and 24% had persistent disease. Multivariate analysis revealed that higher stage, grade, and preoperative GH levels were all predictive of persistence (P &lt; 0.01). Long-term follow-up was obtained on 129 of the patients in initial remission. Of these, 9 (7%) had disease recurrence and 120 remained in remission. The incidence of major postoperative complications was 8% (2% permanent diabetes insipidus, 2% cerebrospinal fluid leaks requiring surgery, 2% meningitis, and 2% hypopituitarism), with no mortality. In contrast to the 2.4- to 4.8-fold increased mortality among untreated acromegalics, the mortality rate among patients with posttherapy GH levels &lt;5 ng/mL was equivalent to that of age- and sex-matched controls. Aggressive therapy to normalize GH levels should therefore be instituted at diagnosis.

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