123 research outputs found
Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study
Hypopituitarism, the deficiency of one or more pituitary hormones, causes stunted
growth and severe health problems. Understanding the etiology of pituitary
hormone deficiencies is important for anticipation of clinical problems, for genetic
counselling and for possible prevention. This doctoral thesis describes the results of
studies performed in patients with isolated growth hormone deficiency (IGHD) and
combined pituitary hormone deficiencies (CPHD), in order to explore the genetic and
non-genetic causes of pituitary hormone deficiencies and the phenotypic variability among patients
Family Matters:Trauma and Quality of Life in Family Members of Individuals With Prader-Willi Syndrome
BACKGROUND: Prader-Willi syndrome (PWS) is a potentially life threatening, genetic developmental disorder that requires lifelong medical treatment and behavioral management. PWS has a major impact on the patient's social environment. In this study, we have explored traumatic life events and symptoms of posttraumatic stress disorder (PTSD) in family members of individuals with PWS. We have also assessed quality of life in relation to trauma manifestations. In addition, we have evaluated demographic characteristics such as living setting of PWS patients as well as PWS symptom severity. METHODS: Data of this observational study were obtained by means of the Life Events Checklist DMS-5, the Posttraumatic Stress Disorder Checklist DSM-5, the abbreviated World Health Organization Quality of Life questionnaire, the Lancashire Quality of Life Profile questionnaire, and a short demographic inventory. The study sample includes 98 adults aged 19 to 80 years (M = 49, SD = 15), who are relatives of 69 individuals with PWS aged 0 to 58 years (M = 19, SD = 13). Participants were recruited via the two Dutch patient associations PWS and the Dutch Digital Center of Expertise PWS. RESULTS: Life time prevalence of traumatic events (93%) was higher in family members of PWS patients (“PWS relatives”) than in the general Dutch population (81%). Of those who reported any traumatic event, almost half reported PWS-related events. The prevalence of probable PTSD was higher in PWS relatives (12.1%) than the general lifetime prevalence of PTSD (worldwide, and in the Netherlands 7.4%). Predominant trauma symptoms in PWS relatives were “negative changes in arousal and reactivity” and “negative changes in cognition and mood;” both significantly negatively related to quality of life. Symptom severity of PWS individuals, as well as the associated trauma symptom severity of their relatives increased with age of the PWS individual. The presence of trauma symptoms was less frequent among relatives of PWS individuals living in a care facility. CONCLUSIONS: Having a relative with PWS is associated with higher prevalence of traumatic experiences and greater vulnerability to PTSD. Raising awareness in health care professionals of trauma symptoms in PWS relatives may contribute to effective treatment of their psychosocial stress. In addition, timely interventions might prevent family members from developing psychopathology like PTSD
Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls
Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies
A Systematic Review of Amenable Resilience Factors That Moderate and/or Mediate the Relationship Between Childhood Adversity and Mental Health in Young People.
Background: Up to half of Western children and adolescents experience at least one type of childhood adversity. Individuals with a history of childhood adversity have an increased risk of psychopathology. Resilience enhancing factors reduce the risk of psychopathology following childhood adversity. A comprehensive overview of empirically supported resilience factors is critically important for interventions aimed to increase resilience in young people. Moreover, such an overview may aid the development of novel resilience theories. Therefore, we conducted the first systematic review of social, emotional, cognitive and/or behavioral resilience factors after childhood adversity. Methods: We systematically searched Web of Science, PsycINFO, and Scopus (e.g., including MEDLINE) for English, Dutch, and German literature. We included cohort studies that examined whether a resilience factor was a moderator and/or a mediator for the relationship between childhood adversity and psychopathology in young people (mean age 13-24). Therefore, studies were included if the resilience factor was assessed prior to psychopathology, and childhood adversity was assessed no later than the resilience factor. Study data extraction was based on the STROBE report and study quality was assessed with an adapted version of Downs and Black's scale. The preregistered protocol can be found at: http://www.crd.york.ac.uk/PROSPERO/display_record.asp?ID=CRD42016051978. Results: The search identified 1969 studies, of which 22 were included (eight nationalities, study sample n range: 59-6780). We found empirical support for 13 of 25 individual-level (e.g., high self-esteem, low rumination), six of 12 family-level (e.g., high family cohesion, high parental involvement), and one of five community-level resilience factors (i.e., high social support), to benefit mental health in young people exposed to childhood adversity. Single vs. multiple resilience factor models supported the notion that resilience factors should not be studied in isolation, and that interrelations between resilience factors should be taken into account when predicting psychopathology after childhood adversity. Conclusions: Interventions that improve individual, family, and/or social support resilience factors may reduce the risk of psychopathology following childhood adversity. Future research should scrutinize whether resilience factors function as a complex interrelated system that benefits mental health resilience after childhood adversity.AvH is supported by the Royal Society (620 DH15017 & RGF\EA\180029), and MQ (MQBFC/2). JF is supported by the Medical Research Council Doctoral Training/Sackler Fund and the Pinsent Darwin Fund. HC was supported by CLAHRC - East of England at the
time of data analysis. PW’s personal unrestricted research account paid for some incidental costs of obtaining papers. Funders of the authors played no role in the conduction or reporting of the systematic review
Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls
Background/Aims: Expression of the human growth hormone (GH) gene (GH1) is regulated by a locus contro
Hypertension with hidden causes:the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion
This case report aims to alert physicians to neuropsychological features and chromosomal variants that may underly resistant hypertension. We present a 35-year-old female patient with hypertensive crisis (BP 260/160 mmHg), initially treated with a combination of calcium antagonists, beta blockers, diuretics and angiotensin-converting enzyme (ACE)-inhibitors, though with little improvement. Cushing's syndrome, Conn's syndrome, and glucocorticoid receptor deficiency were ruled out. Multidisciplinary examination of medical history and (hetero)anamneses including psychosocial factors revealed mild dysmorphic body features, developmental delay, early diagnosis of autism spectrum disorder, a history of being bullied at school, little peer contact, learning disabilities, and special education. Neuropsychological assessment demonstrated below average to low average intelligence quotient, cognitive impairments, and psychopathology. Parallel genetic analyses revealed a rare 16p11.2 microdeletion syndrome. These concurrent examinations explained the patient's life-long high stress levels. After psychological treatment, with additional support at home, her blood pressure lowered to normal levels and antihypertensive drugs were no longer needed.</p
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: Sustained positive effects on body composition
Three years of growth hormone treatment in young adults with Prader-Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome
Context: Growth hormone (GH) has been approved for children with Prader-Willi syndrome (PWS) and significantly improves body composition in adults with PWS. Adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DMT2). Continuation of GH maintains body composition, but GH is known to induce insulin resistance, which might affect glucose homeostasis. Studies on long-term effects of GH treatment in adults are very limited. Objective: To investigate effects of 3 years of GH treatment on glucose homeostasis and prevalence of metabolic syndrome (MS) in adults with PWS. Design: Open-label, prospective study. Patients: 43 young adults with PWS. Setting: Dutch PWS Reference Center. Main outcome measures: Glucose and insulin during oral glucose tolerance test. Results: Estimated mean (95% CI) fasting glucose and insulin levels remained stable during 3 years of GH treatment. Glucose being 4.6 (4.4-4.8) mmol/l at start and 4.7 (4.6-4.9) mmol/l after 3 years (P =.07); insulin being 59.5 (45.2-75.8) pmol/l and 56.7 (45.2-69.6) pmol/l resp. (P =.72). Sex, ethnicity and fat mass percentage were significantly associated with fasting glucose levels, while IGF-I or GH-dose were not. Blood pressure, lipids and prevalence of MS remained stable during 3 years of GH. IGT prevalence was variable over time, six patients had IGT at start and eleven after 3 years of GH. One patient developed DMT2. However, prevalence of IGT or DMT2 was not significantly higher after 3 years than at study start. Conclusions: Three years of GH treatment in adults with PWS does not impair glucose homeostasis and does not lead to an increased prevalence of DMT2
What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome:Lessons from a case series
Context: Prader-Willi syndrome (PWS) is a complex rare genetic syndrome. Mortality in patients with PWS is 3% per year. In nearly half of the patients, the cause of death is of cardiopulmonary origin. Prevention, diagnosis and treatment of cardiovascular (CV) disease in PWS adults is complicated by the behavioral phenotype, reduced ability to express physical complaints, high pain threshold and obesity. Objective: To describe the challenges in prevention, diagnosis and treatment of CV disease in PWS adults, in order to increase awareness and improve medical care. Methods: Retrospective study of medical records of adults visiting the Dutch PWS reference center. Results: We describe the challenges encountered during diagnosis and treatment of four PWS adults with heart failure. All had pre-existent peripheral edema. CV risk factors in these patients were obesity (n=4), type 2 diabetes mellitus (n=2), hypertension (n=2), hypogonadism (n=3) and sleep apnea (n=2). Remarkably, all patients were younger than 40 years during their first cardiac decompensation. All patients presented with progressive shortness of breath and/or orthopnea and progressive pitting edema. In 117 controls with PWS without CV problems, 31% had leg edema. Conclusion: Diagnosing CV problems in PWS adults is challenging. Peripheral edema is common in PWS adults without CV morbidity, which makes edema in general a poor marker for heart failure. However, when edema is of the pitting kind and progressive, this is a strong predictor of cardiac decompensation. We provide practical recommendations for diagnosing and treating CV problems in this vulnerable patient population.</p
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