How does the Huntington''s disease mutation damage cells?

Huntington's Disease (HD) is an autosomal dominant neurodegenerative condition with devastating consequences. HD is caused by the expansion of a CAG trinucleotide repeat stretch in the coding sequence of the HD gene that gives rise to a long polyglutamine tract in the huntingtin protein. How this mutated protein gives rise to the disease state is controversial. In this Perspective, I discuss the results of a new study on the effects of the mutated huntingtin protein in light of previous findings and suggest that the HD mutation damages cells by perturbing multiple parallel pathways by gain-of-function and possibly also dominant negative mechanisms.     

The Relationship Between Divorce and Children with AD/HD of Different Subtypes and Comorbidity: Results from a Clinically Referred Sample

This study investigated the relationship between divorce and the symptom profile of children with attention deficit/hyperactivity disorder (AD/HD). The files of 1,201 children from a pediatric practice in Sydney, Australia were used in this study. Children were aged 6 to 18 years, and were diagnosed with either the inattentive or combined type of AD/HD. Results show that 213 children had parents who were divorced. Children with the combined type, and especially boys with comorbid conduct disorder/oppositional defiant disorder (CD/ODD) were more common in the divorced group, and children of the inattentive type with comorbid learning disabilities were overrepresented in nondivorced families. Results suggest that divorce is associated with disruptive behavior patterns in children with AD/HD. The importance of including marital status as an important correlate in AD/HD treatment outcomes is discussed.     

Substance Abusing Mothers with a History of Childhood Abuse and Their Children's Depressive Symptoms: The Efficacy of Family Therapy

This study examined the associations among maternal history of childhood abuse, substance use, and depressive symptoms and the change in children's depressive symptoms in therapy. Mothers (N = 183) were randomly assigned into either a family or an individual treatment condition. Mothers were assessed for their childhood abuse retrospectively, baseline depressive symptoms, and substance use, whereas their children's depressive symptoms were measured five times during 1.5 years. Maternal childhood abuse was associated with a slower decline in child depressive symptoms through elevated maternal depressive symptoms, only in individual treatment. Maternal substance use further moderated this mediation pathway. This study supports the efficacy of family therapy in protecting children of mothers with a substance use disorder and a history of childhood abuse.     

Therapeutic Use of Fact Sheets in Family Therapy with Children and Adolescents With Functional Somatic Symptoms

Functional somatic symptoms signal distress and reflect an activation of the body's stress‐regulation systems. Many different types of stressors – physical, emotional or both – may activate the body's stress‐regulation systems. If stress‐related disruptions are extreme or are not limited in time, functional somatic symptoms may emerge, signalling that the body remains in a state of activation and somatic distress. In this paper, we describe the development of therapeutic fact sheets, which are used as part of our multimodal, family‐based, rehabilitation intervention for children and adolescents presenting with functional somatic symptoms. The fact sheets provide information about functional somatic symptoms – including their assessment and treatment – from a stress‐system framework. They are used in the context of a family intervention to facilitate engagement with the family and to reduce parental anxiety and reactivity. Whilst the fact sheets were initially developed for parents, over time we found that the sheets were also useful in managing anxiety in the medical and school systems. A key goal of this article is to share this resource with other clinicians working with children/adolescents with functional somatic symptoms.     

Bloodless management of benign prostatic hyperplasia: medical and minimally invasive treatment options

Benign prostatic hyperplasia (BPH) is a medical condition affecting a wide range of the aging male population resulting in various degrees of lower urinary tract symptoms (LUTS). Today, a variety of medical therapies and minimally invasive BPH treatment modalities are available. Medical therapy includes α₁ blockers, 5α reductase inhibitors and combination therapy. When these options fail, surgery is indicated. Transurethral resection of the prostate (TURP) is still considered the gold standard surgical treatment for BPH. Nevertheless, numerous minimally invasive treatment alternatives are available that are comparable in effectiveness to TURP, with significantly less morbidity. In this article, current treatment options for BPH are reviewed with respect to their indications, long-term safety and efficacy in relieving BPH related LUTS. The selection of the type of BPH treatment should be based on the physician's experience, patient's co-morbidities as well as the prostate size and clinical disease progression.     

Dementia with cerebrovascular disease

In this case study, we review the symptoms, cognitive testing, brain imaging, and brain pathology of a woman with dementia, for whom the neuropathological findings suggest a prominent contribution of cerebrovascular disease. Vascular dementia is the term commonly used for persons with dementia resulting from strokes, either clinically evident or subclinical "silent" events. "Mixed dementia" is the term used when there is an admixture of pathological findings related to Alzheimer's disease (AD) and cerebrovascular disease, as in this situation. In some cases of mixed dementia, the pathological involvement of AD may be the principal contributory cause of the cognitive symptoms, and in others, the vascular changes may give the greater contribution.     

Clinical trial of treatment with saikokaryukotsuboreito for eugonadal patients with late-inset hypogonadism-related symptoms

The purpose of this study was to evaluate the efficacy and safety of saikokaryukotsuboreito (SKRBT), which is widely used for a variety of clinical conditions, neuropsychiatric disorders, for patients with LOH-related symptoms. Twenty-two eugonadal patients over 40 years of age with LOH-related symptoms were included in this study. SKRBT was given orally to these patients three times daily to a total of 7.5 g/day for more than two months. Laboratory and endocrinological profiles were reviewed, and LOH symptoms were judged by means of several health assessment instruments such as the Aging Males' Symptoms (AMS) scale, Self-rated Depression Scale (SDS), International Prostate Symptom Score (IPSS), and King's Health Questionnaire (KHQ). Total AMS scores and AMS subscores were significantly decreased after the treatment. The KHQ, general health perception and impact on life scores were also significantly decreased, although no significant improvement was observed in other KHQ factors or the SDS score or IPSS. The serum concentrations of testosterone fractions did not change with treatment. Laboratory values did not change, and no adverse effects were identified after treatment. We conclude that SKRBT may be considered for treatment of patients with LOH-related symptoms for eugonadal patients.     

Osteoarthritis

In this case study, we describe the symptoms, evaluation, and management of a woman with osteoarthritis (OA). OA is the most common form of arthritis worldwide and it is a major cause of disability in the elderly. Although there are several aging-related changes in the musculoskeletal system that may contribute to the pathogenesis of this disease, research suggests that OA is not merely an inevitable result of aging. OA is most likely a multifactorial process whereby non-aging-related factors also contribute to the onset, progression, and symptomatology of the disease. Specifically, both biochemical factors, including physiological properties of cartilage and bone, and biomechanical factors such as muscle strength, proprioception, and joint loading have been implicated in the pathogenesis of OA. Newer nonpharmacological treatment options are focusing on how to improve symptoms and prevent progression of the disease through mechanical interventions.     

Democracy and human development: recent legislation in India

Human Development (HD) requires that development must accompany fundamental human concerns that make life worth living. It is surprising that despite being a democracy, India performs poorly on HD. In this backdrop, four pieces of legislation of different orientations have been passed since 1998–99: ‘Swarnajayanti Gram Swarozgar Yojana’, the ‘Right to Information’, the ‘National Rural Employment Guarantee Act’ and the ‘Right to Education’. Where successful, they have empowered the beneficiaries. Though not expressed as such, nor exclusively directed to this end, these pieces of legislation are bound together with democracy's demand for HD: they are influenced externally by various aspects of globalisation; internally, development is continuously interrogated by democracy, competitive politics and social activism.     

Systemic lupus erythematosus and hormone replacement therapy

The indications for hormone replacement therapy (HRT) in postmenopausal women is the treatment of climacteric symptoms and the prevention of osteoporosis. Women with systemic lupus erythematosus (SLE) are more likely to have a premature menopause, osteoporosis and cardiovascular disease. HRT can induce SLE flares and cardiovascular or venous thromboembolic events. Therefore it should not be used in women with active disease or those with antiphospholipid (aPL) antibodies. In general, it should be used only for patients without active disease, a history of thrombosis or aPL antibodies. Non-oral administration of estrogen is recommended because of its lesser effect on coagulation. With regard to the progestogen, progesterone or pregnane derivatives are preferred. Otherwise, non-estrogen-based strategies should be used.     

Addressing Emotional Communication in Family Relationships in the Treatment of Young People with Anorexia: A Case Study

Family‐based treatment (FBT) is an evidence‐based approach to anorexia nervosa in young people. Because it is not always successful, attention has been given to how families experience the treatment. A number of therapists have proposed possible additions to, or improvements in, the model. In successful cases relational containment may be achieved in the first phase of treatment. The treatment is often successful, but when initial goals, such as weight recovery, are not achieved, continuing to use the techniques described in the manual may become unhelpful. Sometimes therapists may need to address issues such as emotion coaching that are not specifically addressed in the FBT model. We describe a case in which the therapist addressed the family's emotional style in the first stage of treatment. This focus enabled progress to be achieved despite the adolescent's continuing difficulty in eating without parental support, and her escalating symptoms of anxiety and obsessional compulsive disorder (OCD). Therapy helped the adolescent and family understand that anorexic and OCD symptoms can be understood as a way of distracting from and managing distress. When this connection was made in therapy, the parents could help their daughter to manage distress in more adaptive ways. Parents may need help with their own difficulties in processing distress. In this case the parents needed the opportunity to resolve feelings of grief about a miscarriage in order to do so. We propose that therapy should address family difficulties with managing distress from an early stage.     

Lionrock prepared for the pandemic with video treatment

Lionrock Recovery has been providing videoconferencing for addiction recovery for a decade, so it was ready for the requirements under the pandemic for virtual support groups. Originally designed for people who wanted privacy and would not go to a physical treatment program, Lionrock's high‐definition videoconferencing, in groups and in individual therapy, is now essential. (Also see “HD videoconferencing offers a treatment alternative,” ADAW, Nov. 19, 2012; https://onlinelibrary.wiley.com/doi/epdf/10.1002/adaw.20354 .)     

The Philippine Male Aging Survey

The aging male is fast becoming a global concern. The problem is predicted to become a major health issue that should be addressed immediately in order to prevent disability, morbidity, and, more importantly, mortality. As part of its commitment to increase awareness and create interest in the care of Filipino aging males, The Philippine Society for the Study of the Aging Male Foundation, Inc. (PhiSSAM), a multi-specialty society established in 2000, embarked on a survey among Filipino physicians to determine their knowledge, attitudes, and practices regarding male aging. Results showed that the majority of doctors (about 87%) thought that men may experience andropause. Most would diagnose patients based on symptoms alone, while only 20–30% used testosterone levels to make a diagnosis of andropause. Decreased libido and less strong erections were the symptoms very closely associated with low testosterone. Of those doctors responding, 89% agreed that andropause can affect the quality of a man's life as much as menopause can affect a female; only 38% had already prescribed/instituted treatment for andropause. Of the 62% non-prescribers, 58% said they were either very likely or fairly likely to institute treatment in the future if there were more clinical trials, more medical information, and more information on drugs. Major concerns on testosterone replacement therapy included prostate cancer, benign prostatic hypertrophy, and heart disease. The findings in this pilot survey indicate a need among the doctors in the Philippines for education about andropause and the available treatments.     

Self-efficacy and social support for psychological well-being of family caregivers of care recipients with dementia with Lewy bodies,Parkinson’s disease dementia,or Alzheimer’s disease

The study identified factors associated with depressive symptoms in family caregivers of persons with dementia with Lewy bodies, Alzheimer’s disease, or Parkinson’s disease dementia. An Internet-based survey generated 606 response sets. Regression analysis indicated that care recipients’ memory and behavioral problems, caregivers’ self-efficacy, grief, and tangible, emotional, and affectionate support were significantly associated with caregivers’ depressive symptoms. Self-efficacy mediated caregiver burden to improve psychological well-being. Social support mediated the association between caregiver grief and psychological well-being. Social workers can provide psychoeducational interventions to help caregivers to manage emotional distress and improve capacity to manage tasks related to the dementia.     

The Efficacy of Internal Family Systems Therapy in the Treatment of Depression Among Female College Students: A Pilot Study

College women are vulnerable to depression due to developmental and transitional life changes. Early diagnosis and effective treatment is critically important. Empirical support exists for the effectiveness of select treatment options (i.e., antidepressant medication, cognitive‐behavioral therapy [CBT], and interpersonal psychotherapy [IPT]), yet a significant percentage of those treated do not benefit. In this pilot study, Internal Family Systems (IFS) therapy was tested as an alternative approach. College women (N = 37) were randomly allocated to IFS treatment or treatment as usual (CBT or IPT). Results demonstrated a decline in depressive symptoms for both conditions and no significant differences in the magnitude or rate of change. The results provide preliminary evidence for the efficacy of IFS in the treatment of depressive symptoms.     

Social work and genetic testing: Ethical issues encountered in predictive testing for Huntington disease

Abstract

Recent advances in genetic technology, including the availability of presymptomatic genetic (ie. predictive) testing for untreatable late-onset conditions, have created a number of practice challenges for social workers. This article outlines the social worker's role in the internationally accepted protocol for provision of predictive testing for Huntington Disease (HD) and highlights some of the complex ethical, emotional and practical issues arising from predictive testing for HD and other similar disorders. For social workers in this field, attempts to deal with ethical dilemmas must rely both on the social work code of ethics and on reference to major principles of bioethics such as respect for autonomy, beneficence, non-maleficence and justice. It is acknowledged that in some situations involving a conflict of ethical principles there may be no ideal resolution.     

A Strengths Perspective in Working with an Adolescent with Dual Diagnosis

Dual diagnosis has gradually become a problem among adolescents in Hong Kong. In working with persons with dual diagnosis, professionals are accustomed to use a disease model in diagnosis, treatment, and rehabilitation. By means of a case illustration, the writer tries to contrast a disease orientation and a strengths perspective in working with persons with dual diagnosis. The disease orientation stresses: addiction and mental illness; intoxication and dependence; symptoms and diagnosis; detoxification and treatment; confusion and control as well as resistance and labeling. The strengths perspective focuses on: decoding frustration and emptiness from addiction; searching for strengths to satisfy normal needs; establishing social support and encouraging participation in a healthy environment; re-anchoring self-confidence and capability development as well as maintaining empathetic trust. In this case, with the strengths perspective, the writer successfully helped an adolescent to re-build his self-confidence and re-establish a healthy social support system to live a normal life.     

Sing for the Moment: A Choral Ensemble for Persons with Dementia and Their Care Partners

Research suggests that people with Alzheimer’s disease and other dementias receive various benefits from singing. This article describes the Sing for the Moment Choir, an ensemble comprised of persons with Alzheimer’s disease or related dementias, and their care partners. The choir is sponsored by the greater Pennsylvania Chapter of the Alzheimer’s Association. As the world’s leading voluntary health organization in Alzheimer’s care, support, and research, the Alzheimer’s Association is committed to raising awareness of this fatal brain disease. The program mission statement is: “the Sing for the Moment Choir provides persons with Alzheimer’s disease and related dementia and their care partners an opportunity to socialize, connect and inspire others through singing.”     

Insulin resistance and management of the menopause: a clinical hypothesis in practice

Insulin resistance (IR) is associated with a number of metabolic abnormalities including glucose intolerance, dyslipidemia and central obesity (the metabolic syndrome), which predispose to cardiovascular disease, diabetes mellitus and some cancers. The incidence of many of these conditions increases after the menopause, a time when IR also increases. Medical intervention to help alleviate menopausal symptoms, frequently vasomotor in origin, usually involves hormone replacement therapy (HRT), but some women may only experience partial symptom relief. We have hypothesized that this may be due to concurrent IR. Our approach is therefore to manage menopausal symptoms in conjunction with the treatment of any concurrent IR, achieved through a combination of hormone replacement, dietary intervention and, if necessary, an insulin sensitizer. We suggest that this approach may not only improve symptom relief but may also reduce the risk of developing more serious health complaints in the future.