Pheochromocytoma: a retrospective study from a single center

Abstract Objectives. Pheochromocytoma (PCC) is a neuroendocrine tumor derived from chromaffin tissue more frequently found in the adrenal medulla. Many discoveries over the last decade have significantly improved our understanding of PCC. Methods. We retrospectively reviewed all patients with a histological diagnosis of PCC at the Centro Hospitalar Universitario de Sao Joao, a tertiary and university hospital in Oporto, Portugal, between January 2009 and December 2017. Results. The study group included 33 patients. In most cases the diagnosis was suspected with more than half of patients presenting with hypertension and the third diagnosed during the work-up of an adrenal incidentaloma. About half of the patients was referred for genetic testing and 6 patients had a positive inherited susceptibility genetic pathogenic variant associated with classic cancer predisposition syndromes and also associated with newly described genes. In the incidentaloma group, genetic testing was performed in 3 (9%) patients with only 1 positive result. In the suspected group, 15 (45%) genetic tests were performed. Conclusions. In contrast to other studies, where only a minority of patients with PCC were referred for genetic counselling, in our study 54% of patients was referred for genetic testing. This study suggests that clinicians were correctly recognizing the need to refer young patients and patients with positive family history. However, opportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PCC, particularly older than 30 years old. It is imperative that all the providers involved in the multidisciplinary care of patients with pheochromocytomas are aware of the genetic disorders associated with these unique tumors.

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Subclinical characteristics and analytical indications of the laparoscopic adrenalectomy for benign adrenal incidentaloma

Vietnam Journal of Endolaparoscopic Surgery ◽

10.51199/vjsel.2020.2.1 ◽

2020 ◽

Vol 10 (2) ◽

Author(s):

Thành Vinh Nguyễn ◽

Đức Tiến Nguyễn

Keyword(s):

Adrenal Gland ◽

Laparoscopic Adrenalectomy ◽

Adrenal Adenoma ◽

Young Patients ◽

Adrenal Incidentaloma ◽

University Hospital ◽

Indications For Surgery ◽

Risk Of Malignancy ◽

Average Tumor Size

Tóm tắt Đặt vấn đề: Nghiên cứu đặc điểm cận lâm sàng và phân tích chỉ định phẫu thuật nội soi (PTNS) điều trị u tuyến thượng thận (TTT) lành tính không triệu chứng. Phương pháp nghiên cứu: Nghiên cứu tiến cứu 64 người bệnh (NB) u TTT lành tính không triệu chứng được điều trị bằng PTNS tại Bệnh viện Hữu nghị Việt Đức từ tháng 10/2015 đến tháng 10/2018. Kết quả: Tuổi trung bình 45,7. Nam/nữ: 3/5. Kích thước u trung bình 3,0 ± 2,1 cm. 57,8% u không hoạt động nội tiết. 73,4% u tuyến vỏ thượng thận, 17,2% u tủy thượng thận (Pheochromocytoma). Chỉ định mổ: 42,2% do u hoạt động nội tiết, 25% u thay đổi kích thước khi theo dõi, 17,2% u ≥ 4cm và 15,6% u < 4cm (Nghi ngờ Pheochromocytoma) trên cắt lớp vi tính (CLVT). Kết luận: Chỉ định PTNS cắt bỏ tuyến thượng thận nên được khuyến nghị cho những khối u có kích thước lớn hơn 4cm hoặc thay đổi chức năng nội tiết vì tăng nguy cơ ác tính, đặc biệt là ở những người bệnh trẻ tuổi. Đánh giá nội tiết nên được thực hiện ở tất cả các người bệnh để xác định tình trạng tăng tiết hormon mà chưa có biểu hiện lâm sàng. Abstract Introduction: Research of subclinical characteristics and analytical indications of the laparoscopic adrenalectomy for benign adrenal incidentaloma. Materials and Methods: Prospective research in 64 patients with adrenal incidentaloma underwent laparoscopic adrenalectomy at Viet Duc University Hospital from 10/2015 to 10/2018. Results: The average of age was 45,7 years old, male / female was 3/5. Average tumor size was 3,0 ± 2,1cm. Benign non-functional accounted for 57,8%. Adenoma is 73,4% and Pheochromocytoma in 17,2%. Indications for surgery: 42,2% of secretion tumors, 25% tumors changed in size during follow-up time, 17,2% tumors sized ≥ 4cm and 15,6% tumors sized < 4cm (suspect Pheochromocytoma) in CT scan check. Conclusion: Indications of laparoscopic adrenalectomy should be recommended for adrenal incidentaloma size over 4 cm because of the risk of malignancy, especially in young patients. Endocrine evaluation should be performed in all patients to identify silent states of hormone excess. Keywords: Adrenal adenoma, adrenal gland.

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Are immunohistochemical (IHC)/microsatellite instability (MSI) testing necessary as part of Lynch syndrome work-up in the era of multiplex genetic testing?

Journal of Clinical Oncology ◽

10.1200/jco.2014.32.3_suppl.425 ◽

2014 ◽

Vol 32 (3_suppl) ◽

pp. 425-425

Author(s):

Ahmad Fitri Idris ◽

Simon D. Hooper ◽

Michael P. Farrell ◽

Carmel Nolan ◽

Roisin Clarke ◽

...

Keyword(s):

Genetic Testing ◽

Lynch Syndrome ◽

Mismatch Repair ◽

Median Time ◽

Cancer Genetics ◽

Positive Family History ◽

Birth Date ◽

Variants Of Uncertain Significance ◽

Uncertain Significance ◽

Work Up

425 Background: IHC for mismatch repair proteins and MSI are commonly used to direct genetic testing for Lynch Syndrome. Abnormal results in the setting of a positive family history often lead to genetic testing for Lynch syndrome. The often cumbersome process of completing IHC/MSI requires obtaining stored tissue +/- blood from a family member affected with cancer. Upfront genetic testing is not favoured due to concerns about identifying variants of uncertain significance. We performed a review of Lynch syndrome work-up in Ireland, and propose a model that is the reverse of the current international standard, and may expedite and simplify work up of these families. Methods: Data was ascertained from three cancer genetics services in Dublin and included the following variables: date of birth, date of request and reporting results for IHC, MSI and genetic tests. Time intervals were determined for LS work-up for all patients who had the process initiated in these 3 centres. Results: Probands from 50 families referred for LS work-up were included.The median time from date of IHC request to date of IHC report (total of 50 patients) was 4 weeks (range: 4 days to 36 weeks). The median time between date of IHC request to date of MSI report (n = 32 patients) was 20 weeks (range: 4 to 56 weeks). The median time from date of genetic test request to date of result (n = 9 patients) was 9 weeks (range: 2 to 26 weeks). The median time for completion of all 3 tests in one individual (n=3 patients) was 14 weeks (range: 10 to 60 weeks). Conclusions: The diagnostic pathway for Lynch syndrome is cumbersome and often lengthy. Appropriate upfront multiplex genetic testing would expedite the identification of mismatch repair gene mutation carriers. IHC/MSI testing could be used to characterise variants of uncertain significance.

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Juvenile Huntington’s disease: two case reports and a review of the literature

Journal of Medical Case Reports ◽

10.1186/s13256-020-02494-7 ◽

2020 ◽

Vol 14 (1) ◽

Author(s):

Sigita Lesinskienė ◽

Darja Rojaka ◽

Rūta Praninskienė ◽

Aušra Morkūnienė ◽

Aušra Matulevičienė ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Psychiatric Symptoms ◽

Case Reports ◽

Genetic Disorders ◽

Young Patients ◽

University Hospital ◽

Important Message ◽

Juvenile Huntington’S Disease ◽

And Behavior

Abstract Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest before the age of 21. This is then referred to as juvenile Huntington’s disease. According to the small number of cases reported in the literature, the course of juvenile Huntington’s disease significantly differs from adult onset and shows significant interpatient variability, making every case unique. Case presentation Our study aims to highlight the complexity and diversity of rare juvenile Huntington’s disease. We report cases of two Caucasian patients with chronic tics referred to the Huntington’s Disease Competence Center of Vilnius University Hospital Santaros Klinikos with suspicion of juvenile Huntington’s disease due to the appearance of chronic motor tics, and behavior problems. The diagnosis of juvenile Huntington’s disease was confirmed on both clinical and genetic grounds. In both cases described, the patients developed symptoms in all three main groups: motor, cognitive, and psychiatric. However, the first patient was experiencing more severe psychiatric symptoms; in the second case, motor symptoms (rigidity, tremor) were more prominent. In both cases, apathy was one of the first symptoms and affected patients’ motivation to participate in treatment actively. These two case descriptions serve as an important message for clinicians seeing patients with chronic tics and gradually worsening mood and behavior, indicating the need to investigate them for rare genetic disorders. Conclusions Description of these two clinical cases of juvenile Huntington’s disease provides insight into how differently it manifests and progresses in young patients and the difficulties the patients and their families face. There were different but painful ways for families to accept the diagnosis. Because the disease inevitably affects the patient’s closest ones, it is crucial to also provide adequate psychological and social support to all the family members. Establishment of multidisciplinary specialist centers for Huntington’s disease, as demonstrated by our experience, not only allows timely diagnosis and treatment plans but also ensures thorough disease management and care for patients and systematic support for their families.

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The individualized, accompanied transition program “TraiN” for adolescent kidney patients – a local initiative

Journal of Transition Medicine ◽

10.1515/jtm-2021-0002 ◽

2021 ◽

Vol 3 (1) ◽

Author(s):

Paula Collette ◽

Luisa C. Klein ◽

Lisa M. Körner ◽

Gundula Ernst ◽

Sandra Brengmann ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Disease Management ◽

Health Risks ◽

Pediatric Nephrology ◽

Young Patients ◽

Transition Program ◽

University Hospital ◽

Adult Care ◽

Local Initiative

Abstract Since the transition from pediatric and adolescent to adult care often proceeds unaccompanied and unplanned, young patients with chronic kidney disease may experience health risks and non-adherence after the transfer. The psychosocial team at the Department of Pediatric Nephrology at the University Hospital of Cologne has therefore developed its local transition program “TraiN” for patients with chronic kidney disease aged 13 years and older. It combines structure and flexibility through predefined content modules that can be individually adapted to the patients, offering continuity and sustainability through a transition contact person. In addition, the family members are offered regular psychological consultations. The timing of the transfer is chosen individually depending on the level of psychosocial and medical transition readiness. The aim of “TraiN” is to strengthen the patients’ transition competence and the responsibility for their disease management and to provide them and their families the best possible support during the transition in order to prevent possible health risks. In the near future, a scientific evaluation will be conducted aiming to determine whether “TraiN” can support young people in their independence and self-reliant disease management.

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Long-term mortality in young patients with spontaneous intracerebral haemorrhage: Predictors and causes of death

European Stroke Journal ◽

10.1177/23969873211017723 ◽

2021 ◽

Vol 6 (2) ◽

pp. 185-193

Author(s):

Jamie I Verhoeven ◽

Marco Pasi ◽

Barbara Casolla ◽

Hilde Hénon ◽

Frank-Erik de Leeuw ◽

...

Keyword(s):

Mortality Risk ◽

Intracerebral Haemorrhage ◽

Causes Of Death ◽

Cox Regression ◽

Young Patients ◽

University Hospital ◽

Standardized Mortality Ratio ◽

Excessive Alcohol Consumption ◽

Long Term Mortality

Introduction Intracerebral haemorrhage (ICH) in young adults is rare but has devastating consequences. We investigated long-term mortality rates, causes of death and predictors of long-term mortality in young spontaneous ICH survivors. Patients and methods We included consecutive patients aged 18–55 years from the Prognosis of Intracerebral Haemorrhage cohort (PITCH), a prospective observational cohort of patients admitted to Lille University Hospital (2004–2009), who survived at least 30 days after spontaneous ICH. We studied long-term mortality with Kaplan-Meier analyses, collected causes of death, performed uni-/multivariable Cox-regression analyses for the association of baseline characteristics with long-term mortality. Results Of 560 patients enrolled in the PITCH, 75 patients (75% men) met our inclusion criteria (median age 50 years, interquartile range [IQR] 44–53 years). During a median follow-up of 8.2 years (IQR 5.0–10.1), 26 patients died (35%), with a standardized mortality ratio of 13.0 (95% confidence interval [95% CI] 8.5–18.0) compared to peers from the general population. Causes of death were vascular in 7 (27%) patients, non-vascular in 13 (50%) and unknown in 6 (23%). Global cerebral atrophy (hazard ratio [HR] 3.0, 95% CI 1.1–8.6), modified Rankin Score >2 before ICH (HR 3.4, 95% CI 1.0–11.0), and excessive alcohol consumption (HR 3.3, 95% CI 1.1–10.2) were independently associated with long-term mortality. Discussion We found a 13-fold higher mortality risk for young ICH survivors compared to the general French population. Predictors of long-term mortality were pre-existing conditions, not ICH-characteristics. Conclusion Young ICH survivors remain at increased mortality risk of vascular and non-vascular death for years after ICH.

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Cystic fibrosis

InnovAiT Education and inspiration for general practice ◽

10.1177/1755738019883322 ◽

2019 ◽

Vol 13 (1) ◽

pp. 39-46

Author(s):

Jen Standen

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Neonatal Screening ◽

Tertiary Care ◽

Multidisciplinary Care ◽

Shared Care ◽

The Uk

In the UK over 10 000 people live with cystic fibrosis (CF), with 1-in-25 people being carriers of the disease. Multidisciplinary care is provided by tertiary care CF centres, with or without local secondary service shared care agreements. There are still, however, several reasons why CF sufferers or their families present to their GPs. This article aims to provide a brief overview of CF and its management. It also gives the information needed to guide patients about genetic testing and neonatal screening for the disease.

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Models of Comprehensive Multidisciplinary Care for Individuals in the United States With Genetic Disorders

PEDIATRICS ◽

10.1542/peds.2007-2875 ◽

2009 ◽

Vol 123 (1) ◽

pp. 407-412 ◽

Cited By ~ 94

Author(s):

S. D. Grosse ◽

M. S. Schechter ◽

R. Kulkarni ◽

M. A. Lloyd-Puryear ◽

B. Strickland ◽

...

Keyword(s):

United States ◽

Genetic Disorders ◽

Multidisciplinary Care ◽

The United States

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Suicide Probability Among Tramadol Addicts

QJM ◽

10.1093/qjmed/hcab102.007 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Ahmed Saad Mohamed ◽

Nesreen Mohammed Mohsen ◽

Lobna AbuBakr Ismail ◽

Ayat Ullah Mazloum Mahmoud

Keyword(s):

Substance Use ◽

Personality Disorders ◽

Outpatient Clinic ◽

Positive Family History ◽

Clinical Interview ◽

Addiction Severity Index ◽

University Hospital ◽

Antisocial Personality ◽

Significant Difference ◽

Axis I

Abstract Background The magnitude of the problem of substance use in Egypt has been growing lately. Substance use disorders have been associated with depression and suicide, as well as impulsivity and specific personality traits. Suicide is closely linked to the substances use. Therefore it is very important to confirm the factors that affect the possibility of suicide. Aim of the Work This study aimed at evaluating suicide risk and its correlation with each of personality disorders and severity of addiction in a sample of 72 tramadol addicts from outpatient clinic of Institute of psychaitry Ain Shams University hospitals. Patients and Methods This is a descriptive Cross sectional study conducted in outpatient clinic of Institute of psychaitry Ain Shams University hospital. The present study aimed at analyzing the demographic data of 72 tramadol addicts, over six months period from January 2018 to August 2019. The severity of the addiction problem among those patients was assessed using Addiction Severity Index (ASI), suicidal probability was assessed using suicide probability scale (SPS), Structured Clinical Interview for DSM-VI Axis II (SCID-II) for assessing personality disorders and Structured Clinical Interview for DSM-IV Axis I Disorders (SCID I). Results The results showed that 32 (44.44%) of the patients had a risk of suicide probability. Also there was a statistically significant difference between risk of suicidal probability and personality disorders especially antisocial personality. It was found that the need for more power for work and pleasurable effects were the most risk factors for tramadol addiction. Conclusion Suicide probability was found to be (44.44%) among the studied tramadol addicts. The risk of suicide probability among them was found to be significant in each of the following: antisocial personality disorder, longer duration of addiction, being single and positive family history of addiction. Attention should be paid to include the assessment of suicidal risk as part of routine assessment of addicts.

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Concealed cardiomyopathy as a frequent cause of idiopathic ventricular fibrillation in a representative Czech cohort of survivors of sudden cardiac arrest (SCA)

EP Europace ◽

10.1093/europace/euab116.343 ◽

2021 ◽

Vol 23 (Supplement_3) ◽

Author(s):

A Krebsova ◽

P Votypka ◽

P Peldova ◽

J Haskova ◽

T Tavacova ◽

...

Keyword(s):

Cardiac Arrest ◽

Genetic Testing ◽

Ventricular Fibrillation ◽

Dna Sequencing ◽

Clinical Diagnostics ◽

Idiopathic Ventricular Fibrillation ◽

Custom Made ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Ministry of Health of the Czech Republic Introduction The complex diagnostic work up in SCA survivors often does not yield a concrete cardiological diagnosis. Moreover, there is conflicting evidence whether genetic testing could support or guide clinical diagnostics. Purpose To assess the molecular architecture of idiopathic ventricular fibrillation in cases without apparent evidence of specific structural or arrhythmic cardiac disease at initial diagnostic work up in a representative Czech cohort. Patients and Methods Between 2013 - 2020 we have ascertained 100 SCA survivors (54 M / 46 F; age range at cardiac arrest 5-69 years). Genetic counselling was followed by massively parallel DNA sequencing using custom-made panels comprising 100 cardiac conditions-related genes. Subsequently, thorough cardiological screening examinations in first degree relatives were carried out. Presence of pathogenic variants was validated by Sanger DNA sequencing and through family segregation analyses. Results Highly likely or certain molecular aetiology (i.e. based on the presence of Class 4 or 5 variants) was disclosed in 20/100 (20%) in PKP2 (3x), SCN5A (4x), RYR2 (3x), TTN (2x), PLN, FLNC, PRKAG2, KCNH2, KCNQ1, SLC4A, TNNT2, and DSP. Interestingly, the KCNE1 p.Asp85Asn (LQT 5 lite) variant, was detected in further 3/100 cases, representing a recognized risk factor for ventricular arrhythmias. Conclusions Genetic testing facilitates stratification of the cause of arrhythmia in a substantial portion of SCA survivors. The utility of positive outcomes of genetic testing was substantiated in 10/20 gene positive patients, where the genetic stratification led to diagnosis of concealed arrhythmogenic cardiomyopathy, whose extent of morphological changes was under the diagnostic sensibility of imaging modalities or ECG. Our results enable individualized care in SCA survivors and assure targeted preventive approaches in their relatives.

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Genetic Testing by Sports Medicine Physicians in the United States: Attitudes, Experiences, and Knowledge

Sports ◽

10.3390/sports6040145 ◽

2018 ◽

Vol 6 (4) ◽

pp. 145

Author(s):

Eleanor Taranto ◽

Michael Fishman ◽

Holly Benjamin ◽

Lainie Ross

Keyword(s):

United States ◽

Genetic Testing ◽

Sports Medicine ◽

Injury Risk ◽

Expert Knowledge ◽

Disease Risk ◽

Sickle Cell Trait ◽

Positive Family History ◽

The United States ◽

Medical Society

It remains unknown whether and how sports medicine physicians currently utilize genetic testing in their clinical practice. This study sought to assess knowledge of, experience with, and attitudes towards genetic testing by sports medicine physicians in the United States (US). An email with a survey hyperlink was distributed twice to members of the American Medical Society for Sports Medicine (AMSSM) listserv in September 2016, with approximately a 10% response rate. Questions focused on knowledge of, experience with, and attitudes towards testing for different genes related to sports proficiency, injury risk, and disease risk. Few AMSSM physicians believe that genetic testing to adapt training (12%) or to choose a sport (2%) is ready for clinical adoption. Most respondents self-reported minimal knowledge about, and limited experience with, genetic testing. The main exception was screening for sickle cell trait (SCT) for which most (84%) reported moderate/significant/expert knowledge and over two-thirds had ordered testing. Although most respondents thought it appropriate to counsel and test for health conditions associated with cardiac and connective tissue disorders in the setting of a positive family history, only a minority had been asked to do so. Five or fewer respondents (2%) had been asked to test for performance-associated variants (Angiotensin Converting Enzyme (ACE) II and Alpha-Actinin 3 (ACTN3)), and five or fewer (2%) would recommend changes based on the results. Our study provides a baseline of current US sports medicine physicians’ minimal experiences with, and knowledge of, genetic testing. The findings of our study indicate that sports medicine physicians require further genetics education as it relates to sports and exercise in order to be prepared to competently engage with their patients and to develop sound professional organizational policies.

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