scholarly journals Drug Watch Deutetrabenazine

2018 ◽  
pp. 20-22
Author(s):  
Ranjan Bhattacharyya
Keyword(s):  
Risk Factor ◽  
Family History ◽  
Tardive Dyskinesia ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Hepatic Impairment ◽  
Close Monitoring ◽  
Mao Inhibitors ◽  
The Family ◽  
Us Fda

Deutrabenazine is indicated in the management of chorea associated with Huntington’s disease and in the treatment of Tardive dyskinesia in adults by US FDA. However, it should be used with a pinch of salt, as it can raise the risk of depression and suicidal thoughts with unusual behavioural abnormalities specially in patients with Huntington’s disease. The family history is an added risk factor and close monitoring is required and the molecule is contraindicated in this group of patients. In hepatic impairment it is also not recommended. It shouldn’t be used with Reserpine. A window period of 3 weeks after discontinuation of reserpine and 2 weeks for MAO inhibitors and tetrabenazine or valbenazine is recommended. Keyword : Deutetrabenazine, VMAT2 inhibitor, Huntington’s disease, Tardive dyskinesia.

Genetic counselling: a new diagnosis in the family

2020 ◽  
pp. 64-71
Author(s):  
Oliver Quarrell
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Medical Doctors ◽  
Genetic Tests ◽  
The Family ◽  
Close Relatives ◽  
New Diagnosis

This chapter describes the process of genetic counselling in general but with an emphasis on Huntington’s disease. The chapter discusses issues for a new diagnosis in the family and describes the challenges of telling children that they are at risk. Medical doctors often lead genetic counselling teams as they are specially trained to give information about genetic disorders and explain the implications of genetic tests. The doctor or counsellor has to understand your particular circumstances and support you in a way that allows you to make your own decisions. A diagnosis of HD has implications for you and all your close relatives.

The Impact of Juvenile Huntington's Disease on the Family

2008 ◽  
Vol 13 (1) ◽  
pp. 5-16 ◽  
Author(s):  
Helen M. Brewer ◽  
Virginia Eatough ◽  
Jonathan A. Smith ◽  
Cath A. Stanley ◽  
Neil W. Glendinning ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
The Family ◽  
Juvenile Huntington’S Disease ◽  
The Impact

scholarly journals Westphal Variant of Huntington's Disease

2017 ◽  
Vol 17 (01) ◽  
pp. 028-030
Author(s):  
L. Cabarcas-Castro ◽  
J. Ramón-Gómez ◽  
A. Zarante-Bahamón ◽  
O. Bernal-Pacheco ◽  
E. Espinosa-García ◽  
...  
Keyword(s):  
Family History ◽  
Huntington's Disease ◽  
Movement Disorder ◽  
Huntington’S Disease ◽  
Neurodegenerative Disorder ◽  
Cag Repeats ◽  
Molecular Evidence ◽  
Exon 1 ◽  
History Of

AbstractA Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia.

Voluntary movement dysfunction in Huntington's disease and tardive dyskinesia

1987 ◽  
Vol 75 (2) ◽  
pp. 130-139 ◽  
Author(s):  
A. S. David ◽  
D. V. Jeste ◽  
M. F. Folstein ◽  
S. E. Folstein
Keyword(s):  
Tardive Dyskinesia ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Voluntary Movement

Ethical aspects of a predictive test for Huntington’s Disease

2016 ◽  
Vol 23 (5) ◽  
pp. 565-575 ◽  
Author(s):  
Petra Lilja Andersson ◽  
Åsa Petersén ◽  
Caroline Graff ◽  
Anna-Karin Edberg
Keyword(s):  
Moral Responsibility ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Suicide Attempts ◽  
Genetic Test ◽  
Predictive Test ◽  
The Family ◽  
Long Term Consequences ◽  
Test Result

Background: A predictive genetic test for Huntington’s disease can be used before any symptoms are apparent, but there is only sparse knowledge about the long-term consequences of a positive test result. Such knowledge is important in order to gain a deeper understanding of families’ experiences. Objectives: The aim of the study was to describe a young couple’s long-term experiences and the consequences of a predictive test for Huntington’s disease. Research design: A descriptive case study design was used with a longitudinal narrative life history approach. Participants and research context: The study was based on 18 interviews with a young couple, covering a period of 2.5 years; starting 6 months after the disclosure of the test results showing the woman to be a carrier of the gene causing Huntington’s disease. Ethical considerations: Even though the study was extremely sensitive, where potential harm constantly had to be balanced against the benefits, the couple had a strong wish to contribute to increased knowledge about people in their situation. The study was approved by the ethics committee. Findings: The results show that the long-term consequences were devastating for the family. This 3-year period was characterized by anxiety, repeated suicide attempts, financial difficulties and eventually divorce. Discussion: By offering a predictive test, the healthcare system has an ethical and moral responsibility. Once the test result is disclosed, the individual and the family cannot live without the knowledge it brings. Support is needed in a long-term perspective and should involve counselling concerning the families’ everyday life involving important decision-making, reorientation towards a new outlook of the future and the meaning of life. Conclusion: As health professionals, our ethical and moral responsibility thus embraces not only the phase in direct connection to the actual genetic test but also a commitment to provide support to help the family deal with the long-term consequences of the test.

scholarly journals Screening of Hemoglobin A1c in Gestational Diabetes among women attending metabolic clinic at a tertiary care hospital in Uttar Pradesh

2019 ◽  
Vol 10 (2) ◽  
pp. 26-30
Author(s):  
Vivek Sinha ◽  
Poonam Kachhawa
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Risk Factor ◽  
Family History ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Pregnant Women ◽  
P Value ◽  
Close Monitoring ◽  
History Of

Background: Gestational diabetes mellitus (GDM) is a common medical condition that complicates pregnancies..Gestational diabetes mellitus (GDM) is a diabetic metabolic disorder that occurs in 4% of all pregnant women and 14% of ethnic groups with more prevalence of type II diabetes. It can be defined as increased or abnormal insulin resistance, decreased insulin sensitivity or glucose intolerance with first diagnosis during pregnancy. Aims and Objectives: The purpose of this study was to evaluate the diagnostic screening value of the HbA1c, prevalence of GDM and associated risk factors. Materials and Methods: The study was conducted at the metabolic clinic; in the department of Biochemistry located at SIMS, Hapur. A semi-structured pretested questionnaire was used for data collection. Following the DIPSI guidelines, patients with plasma glucose values >140 mg/dl were labeled as GDM. Statistical methods used were OR (CI95%), percentage, Chi square. Results: Out of 500, 6.72% had GDM. Among all GDM patients, 64.71% had age more than 30 years, 70.59% had BMI more than 25, 41.18% had gravida more than 3 and p- value was significant with regard to age and BMI. P value was found to be significant for risk factors namely positive family history of Diabetes Mellitus, history of big baby and presence of more than one risk factor. Conclusion: GDM is associated with high BMI, early pregnancy loss, family history of DM and previous history of big baby and there could be more than one risk factor. Thus universal screening followed by close monitoring of the pregnant women for early detection of GDM may help improving maternal and fetal outcomes.

scholarly journals Association of family history of schizophrenia and history of obstetric complications at birth: relationship with age at onset and psychopathology dimensions in a Nigerian cohort

2020 ◽  
Vol 20 (2) ◽  
pp. 697-708
Author(s):  
Justus Uchenna Onu ◽  
Jude Uzoma Ohaeri
Keyword(s):  
Risk Factor ◽  
Family History ◽  
Independent Risk Factor ◽  
Age At Onset ◽  
Obstetric Complications ◽  
Symptom Dimensions ◽  
Clinical Phenotypes ◽  
The Family ◽  
Psychopathological Symptom ◽  
History Of

Background: The nature of the association between obstetric complications (OCs) at birth and the genetic aetiology of schizo- phrenia remains unclear, as some authors suggest that it is an independent risk factor while others support either interactionism or an epiphenomenon perspective. Objective: To examine the association of family history of schizophrenia (FHS) with history of OCs, with a view to assessing whether this relationship moderates clinical phenotypes such as symptom dimensions and age at onset of illness. Methods: This study examined OCs among schizophrenia probands using the Obstetric Complications Scale. An inquiry into family history was performed using the Family history method. Psychopathological symptom dimensions were assessed using standard scales. Data were analyzed to examine the interaction of FHS and history of OCs with age at onset and symptom dimensions, using ANCOVA. Results: FHS was significantly associated with the disorganized symptoms dimension (p=0.03). History of OCs was significant- ly associated with earlier age at onset (p=0.007). However, in ANCOVA, the effect of the interaction between FHS and history of OCs was not significant for age at onset and symptom dimensions (P = 0.059). Conclusion: FHS was significantly associated with disorganization syndrome, and OCs was significantly associated with age at onset. Keywords: Family history; schizophrenia; obstetric complications; symptom dimensions; age at onset.

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