scholarly journals First Census of Patients with Hereditary Angioedema in the Canary Islands

2021 ◽  
Vol 10 (20) ◽  
pp. 4711
Author(s):  
Alejandro Mendoza-Alvarez ◽  
Itahisa Marcelino-Rodriguez ◽  
Lourdes Almeida-Quintana ◽  
Elena Martin-Fernandez ◽  
Dara Martinez-Beltran ◽  
...  
Keyword(s):  
Canary Islands ◽  
Hereditary Angioedema ◽  
Health Care Professionals ◽  
Positive Family History ◽  
Common Symptom ◽  
Diagnosis Delay ◽  
Rescue Treatment ◽  
Spanish Populations ◽  
History Of ◽  
Collection Form

Hereditary angioedema (HAE) is a rare genetic condition whose main symptoms are recurrent swelling in the skin, mucosa, and internal organs. Recent studies suggested that the regulation of the inflammatory response and the complement cascade are two of the pathways significantly enriched in the Canary Islands, Spain. Here, we describe the first HAE patient series in this region. Forty-one patients (33 F, 8 M) and nine healthy relatives belonging to twenty-nine families were recruited for this study, obtaining their clinical and demographic features using a data collection form, as well as blood samples for biochemical analysis. The mean age of patients was 36.8 years (ranging from 4 to 72 years). Positive family history of HAE was reported in 13 patients (32.5%), and a mean diagnosis delay of 7.9 (±12.5) years was estimated, ranging from months to 50 years. Cutaneous edema was the most common symptom (53.6%), while airway symptoms was present in 11 patients. Prophylactic treatment was indicated for 23 patients, while 14 also require on-demand rescue treatment. We estimate a minimum prevalence of 1.25:100,000 for HAE due to C1-INH deficiency or dysfunction in the Canary Islands, which is higher than the estimates for mainland Spanish populations. HAE continues to be a disease poorly recognized by health care professionals due to its confusing symptoms, leading to longer diagnosis delay. Altogether, the evidence reinforces the need for a rapid and accurate diagnosis and precision medicine-based studies to improve the patient’s quality of life.

scholarly journals Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Mohamed Abuzakouk ◽  
Nada AlMahmeed ◽  
Esat Memisoglu ◽  
Martine McManus ◽  
Aydamir Alrakawi
Keyword(s):  
Abdominal Pain ◽  
Family History ◽  
Hereditary Angioedema ◽  
Positive Family History ◽  
Cleveland Clinic ◽  
Severe Abdominal Pain ◽  
Type Ii ◽  
Abdominal Ct ◽  
Abdominal Ct Scan ◽  
History Of

A 27-year-old Emirate man presented to Cleveland Clinic Abu Dhabi emergency department with a 4 year history of recurrent episodes of severe swellings affecting different parts of his body. He used to get 2 swelling episodes every week affecting either his face, hands, feet or scrotum and severe abdominal pain twice a week. Abdominal CT scan and a colonoscopy showed bowel wall oedema. There was no family history of similar complaint or of hereditary angioedema (HAE). Complement studies confirmed the diagnosis of HAE type II. He was commenced on danazol 100 mg twice daily and his symptoms resolved. This case report highlights the importance of considering HAE in patients with recurrent unexplained abdominal pain even in the absence of positive family history of HAE.

The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

1985 ◽  
Vol 54 (04) ◽  
pp. 744-745 ◽  
Author(s):  
R Vikydal ◽  
C Korninger ◽  
P A Kyrle ◽  
H Niessner ◽  
I Pabinger ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Antithrombin Iii ◽  
Positive Family History ◽  
Normal Range ◽  
The Family ◽  
History Of ◽  
Antithrombin Iii Deficiency ◽  
Recurrent Venous Thrombosis ◽  
Antithrombin Iii Activity ◽  
Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

scholarly journals The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Family History ◽  
Case Control Study ◽  
Positive Family History ◽  
Case Control ◽  
Diabetes Duration ◽  
Family History Of Diabetes ◽  
Thyroid Cancer Risk ◽  
History Of ◽  
Control Study

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.

Effect of Marriage on Pre-existing Psychoses: A Convenient or Futile Solution for Severe Mental Disorders?

2020 ◽  
Vol 2 (3-4) ◽  
pp. 273-276
Author(s):  
Prakash B. Behere ◽  
Aniruddh P. Behere ◽  
Debolina Chowdhury ◽  
Amit B. Nagdive ◽  
Richa Yadav
Keyword(s):  
Mental Disorders ◽  
Age Of Onset ◽  
Social Stigma ◽  
Positive Family History ◽  
Mental Illnesses ◽  
Psychotic Symptoms ◽  
Antipsychotic Treatment ◽  
Contractual Relationship ◽  
History Of ◽  
Paranoid Type

Marriage can be defined as the state of being united as spouses in a consensual and contractual relationship recognized by law. The general population generally believes marriage to be a solution to mental illnesses. It can be agreed that mental disorders and marital issues have some relation. Parents of patients with psychoses expect that marriage is the solution to the illness and often approach doctors and seek validation about the success of the marriage of their mentally ill child, which is a guarantee no doctor can give in even normal circumstances. Evidence on sexual functioning in patients of psychosis is limited and needs further understanding. Studies show about 60%–70% women of the schizophrenia spectrum and illness to experience sexual difficulties. Based on available information, sexual dysfunction in population with psychosis can be attributed to a variety of psychosocial factors, ranging from the psychotic symptoms in itself to social stigma and institutionalization and also due to the antipsychotic treatment. Despite the decline in sexual activity and quality of life in general, it is very rarely addressed by both the treating doctor and by the patient themselves hence creating a lacuna in the patient’s care and availability of information regarding the illness’ pathophysiology. Patients become noncompliant with medications due to this undesirable effect and hence it requires to be given more attention during treatment. It was also found that paranoid type of schizophrenia patient had lower chances of separation than patients with other types of schizophrenia. The risk of relapse in cases with later age of onset of the disease, lower education, a positive family history of psychosis or a lower income increased more than other populations.

scholarly journals Differential expression of micro RNA-29 family in non-diabetic adults of diabetic and non-diabetic parents

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Family History ◽  
Positive Family History ◽  
Cross Sectional Study ◽  
Vital Role ◽  
Micro Rna ◽  
Cross Sectional ◽  
Family History Of Diabetes ◽  
History Of

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).

A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Group Therapy ◽  
Perceived Risk ◽  
Positive Family History ◽  
Risk Information ◽  
Degree Relative ◽  
Therapy Approach ◽  
History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

Levels of anxiety, depression and denial in patients with myocardial infarction

1997 ◽  
Vol 12 (3) ◽  
pp. 149-151 ◽  
Author(s):  
D Sarantidis ◽  
A Thomas ◽  
K Iphantis ◽  
N Katsaros ◽  
J Tripodianakis ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Intensive Care Unit ◽  
Family History ◽  
Positive Family History ◽  
Anxiety And Depression ◽  
Previous Myocardial Infarction ◽  
History Of ◽  
Seeking Help ◽  
Anxiety Depression

SummaryIn this study we investigated 1) the changes in anxiety, depression and denial from admission to discharge in patients admitted to the intensive care unit following an acute myocardial infarction and 2) the effect of smoking habits, time lapsed from the appearance of symptoms to seeking help behavior, presence of a person that motivated the patient to seek help, previous myocardial infarction (MI) and family history of MI, on these changes. The results indicated that 1) the levels of both anxiety and depression increased from admission to discharge, while denial decreased; 2) positive family history of MI was associated with lower difference of denial between admission and discharge.

Blood Pressure and Intra-Erythrocyte Sodium during Normal and High Salt Intake in Middle-Aged Men: Relationship to Family History of Hypertension, and Neurogenic and Hormonal Variables

1984 ◽  
Vol 66 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Ottar Gudmundsson ◽  
Hans Herlitz ◽  
Olof Jonsson ◽  
Thomas Hedner ◽  
Ove Andersson ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Family History ◽  
Salt Intake ◽  
Sodium Intake ◽  
Positive Family History ◽  
Sodium Content ◽  
High Salt Intake ◽  
History Of ◽  
Family History Of Hypertension ◽  
Erythrocyte Sodium

1. During 4 weeks 37 normotensive 50-year-old men identified by screening in a random population sample were given 12 g of NaCl daily, in addition to their usual dietary sodium intake. Blood pressure, heart rate, weight, urinary excretion of sodium, potassium and catecholamines, plasma aldosterone and noradrenaline and intra-erythrocyte sodium content were determined on normal and increased salt intake. The subjects were divided into those with a positive family history of hypertension (n = 11) and those without such a history (n = 26). 2. Systolic blood pressure and weight increased significantly irrespective of a positive family history of hypertension. 3. On normal salt intake intra-erythrocyte sodium content was significantly higher in those with a positive family history of hypertension. During high salt intake intra-erythrocyte sodium content decreased significantly in that group and the difference between the hereditary subgroups was no longer significant. 4. In the whole group urinary excretion of noradrenaline, adrenaline and dopamine increased whereas plasma aldosterone decreased during the increased salt intake. 5. Thus, in contrast to some earlier studies performed in young subjects, our results indicate that moderately increased sodium intake acts as a pressor agent in normotensive middle-aged men whether there was a positive family history of hypertension or not. We confirm that men with positive family history of hypertension have an increased intra-erythrocyte sodium content, and that an increase in salt intake seems to increase overall sympathetic activity.

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