Severe Physical Health Problems Research Articles

Exome Sequencing Identifies a Novel SGCA Gene Mutation in an Iranian Family with Limb Girdle Muscular Dystrophy: A Case Report

Introduction: Autosomal recessive limb-girdle muscular dystrophy (LGMD) is a rare congenital muscular dystrophy type. This inherited disease is one of the most common diseases resulting in severe physical health problems for infants. Genetic studies have shown that several gene mutations cause limb-girdle muscular dystrophy. This study aimed to report the case of a 10-year-old boy from an Iranian consanguineous family diagnosed with congenital muscular dystrophy and a causative genetic abnormality. Case Presentation: In this report, whole exome sequencing (WES) followed by Sanger sequencing was performed to diagnose the possible genetic defects in patients with LGMD. A novel homozygous disease-causing SGCA gene mutation (p.A107fs:c.319-329del) was found in exon 10 (NM_000023.4). Both parents were heterozygous for the detected mutation. Conclusions: It was concluded that the identified SGCA gene mutation was a pathogenic variant causing autosomal recessive LGMD.

Safety of Antipsychotic Polypharmacy Versus Monotherapy in a Nationwide Cohort of 61,889 Patients With Schizophrenia.

The authors sought to study the safety of antipsychotic polypharmacy compared with monotherapy in specific dosage categories. Patients with schizophrenia (N=61,889; median follow-up, 14.8 years [IQR=7.4-22.0]) were identified from the Finnish nationwide inpatient care register and followed up over the period 1996-2017. Antipsychotic polypharmacy was compared with monotherapy in seven dosage categories (<0.4, 0.4-<0.6, 0.6-<0.9, 0.9-<1.1, 1.1-<1.4, 1.4-<1.6, and ≥1.6 defined daily doses [DDDs] per day) in terms of risk of severe physical morbidity, indicated by nonpsychiatric and cardiovascular hospitalizations (adjusted hazard ratio). Within-individual analysis was used in an effort to eliminate selection bias. The mean age of the cohort was 46.7 years (SD=16.0), and 50.3% (N=31,104) were men. Among patients who had used both monotherapy and polypharmacy, the risk of nonpsychiatric hospitalization was significantly lower during polypharmacy use at all total dosage categories above 1.1 DDDs/day with differences up to -13% than during monotherapy use of the same dosage category (for 1.1-<1.4 DDDs/day, adjusted hazard ratio=0.91, 95% CI=0.87-0.95; for 1.4-<1.6 DDDs/day, adjusted hazard ratio=0.91, 95% CI=0.86-0.96; and for ≥1.6 DDDs/day, adjusted hazard ratio=0.87, 95% CI=0.84-0.89). The risk of cardiovascular hospitalization was significantly lower for polypharmacy at the highest total dosage category (-18%, adjusted hazard ratio=0.82, 95% CI=0.72-0.94). The results from the comparisons between monotherapy and no use and between polypharmacy and no use were in line with the primary comparison of polypharmacy and monotherapy within the same individual. Comparison of any polypharmacy use with any monotherapy use showed no significant difference for nonpsychiatric or cardiovascular hospitalization. The results show that antipsychotic monotherapy is not associated with a lower risk of hospitalization for severe physical health problems when compared with antipsychotic polypharmacy. Treatment guidelines should not encourage use of monotherapy instead of antipsychotic polypharmacy without any existing evidence on the safety issues.

Trends and characteristics in barbiturate deaths Australia 2000–2019: a national retrospective study

Introduction There have been increasing reports documenting barbiturate-related deaths, despite routine prescribing for only relatively rare indications. The aims of the current study were to examine trends in barbiturate-related deaths in Australia from 2000 to 2019 and determine the case characteristics and circumstances of barbiturate-related deaths. Methods All barbiturate-related deaths identified in the Australian National Coronial Information System were examined. Information was collected on cause, manner, demographics, location, psychosocial factors, circumstances of deaths and toxicology. We examined these based on the age categories 18–44 years, 45–64 years and ≥65 years. Results We identified 511 cases. Mean age was 57.9 years (SD 20.2, range 18–100) and 56% were male. Intentional poisoning was the most common cause of death (87.5%) and was slightly higher in the oldest age group (92.1%) and lowest in the youngest age group (81.1%). Pentobarbitone was the most common barbiturate (75.7%) and pentobarbitone-related deaths increased from 0% in 2000 to 93.6% in 2017. There were notable differences between age categories, with the youngest age group recording more severe psychiatric histories. In contrast, the oldest age group were more likely to have severe physical health problems, such as cancer, chronic non-cancer pain, neurological conditions and significant cardiopulmonary morbidity. Euthanasia resources were commonly documented (33.9%), most frequently in the oldest age group (52.3%). Conclusion Barbiturate-related deaths in Australia are increasing, particularly pentobarbitone-related deaths. Most deaths were intentional and involved adults across the lifespan. Younger people were more likely to have significant mental health problems, whilst the oldest age group were more likely to have severe physical health conditions.

WOMEN’S RECEPTION ON SOCIAL SUPPORT IN INSTAGRAM ACCOUNT @gethappy.id

Previous research also shows that social media has positive and negative roles related to interpersonal relationships and mental health. The social media used significantly increases social capital and mental well-being, which benefits people with low self-esteem and life satisfaction. Some psychotherapists even use an Instagram platform as their therapeutic medium. This preliminary study frameworks are Stuart Hall’s reception theory, the concept elaborations of social support and online social support, as well as a discussion of the character of social media, Instagram. This paper is based on a qualitative research with data from interviews with 3 female informants on 20-29 years old and gethappy.id account followers. This research succeeded in identifying 2 receptions that emerged from the female group of Instagram account followers gethappy.id. The dominant reader comes from informants who have severe physical health problems and mental health problems related to these physical health problems. Meanwhile, negotiating reader arise from informants who do not have personal physical and mental health problems, but who have a social environment with physical and mental health problems. Another important finding is that the main social support remains family and friends. Social media support is needed when the two main social supports are not present.

The impact of adverse health events on consumption: Understanding the mediating effect of income transfers, wealth, and health insurance.

Using data from the Panel Study of Income Dynamics for years 1999-2013, we investigate the impact of physical and mental illnesses on household consumption and financial status. In comparison to severe physical health problems, mental illnesses lead to larger decreases in labor income. Increases in public and private transfers following the onset of a mental illness do not completely offset the decline in labor income. Consequently, we find a significant decrease in consumption expenditures after the household head experiences a mental problem. On the other hand, public and private transfers and accumulated wealth offset the relatively smaller decline in labor income and enable households with severe physical problems to smooth their consumption. Health insurance helps to prevent larger drops in consumption after the onset of a mental health problem.

Socio-Emotional Problems in Boys with Sex Chromosome Aneuploidies Compared to a Clinical Sample

Boys with sex chromosome aneuploidies (SCA) represent an understudied group. We examined parent-reported physical and socio-emotional problems in 25 boys with SCA (Mean age = 11.7 years, SD = 4.5). The majority had no severe physical health problems. One third of the sample had sleep problems and half of them had weekly or monthly pain. Total emotional and behavior problems, as assessed with the Strengths and Difficulties Questionnaire, were at the same level as reported for boys referred to child mental health clinics. Thus, boys with SCA may have the same need for psychological assessment and intervention as clinic-referred boys.

PLASMA LEVEL MONITORING OF THE MAJOR METABOLITES OF DIACETYLMORPHINE (HEROIN) BY THE “CHASING THE DRAGON” ROUTE IN SEVERE HEROIN ADDICTS

The objective of the present study was to verify if severe physical health problems frequently encountered in heroin addicts and the concomitant use of alcohol and legal or illegal drugs other than heroin influenced the pharmacokinetics of the major metabolites of heroin.We conducted a 90 minutes follow-up of the plasma concentrations of the pharmaceutical heroin, named diacetylmorphine (DAM), in patients recruited in a DAM assisted treatment centre. TADAM (Traitement Assisté par DiAcétylMorphine) aimed to compare the efficacy of heroin-assisted treatment (HAT) compared with methadone maintenance treatment (MMT) for heroin users considered as treatment resistant patients and who have severe physical and mental health problems.Eleven patients were recruited. Blood samples were collected at baseline and 15, 45 and 90 minutes after DAM administration. All patients received DAM by the “chasing the dragon” route. Plasma samples were analyzed by a previously described ultra-high pressure liquid chromatography coupled to tandem mass spectrometry (UHPLC/MS-MS) method.A principal component analysis (PCA) was performed and 8 metabolite concentrations ratios were calculated to evaluate the influence of various factors (DAM dose, patient pathologies, concomitant use of medications, methadone, street heroin, alcohol and cocaine) on heroin metabolite pharmacokinetics. It seemed to be not affected by the DAM dose, patient pathologies and the concomitant use of medications, methadone, street heroin and alcohol. Cocaine use was the only parameter which showed differences in heroin pharmacokinetics.

Intellectual disability and co‐occurring mental health and physical disorders in aggressive behaviour

Mental and physical health problems are more prevalent among individuals with an intellectual disability (ID) than in the general population. Studies suggest that there may be significant associations between these co-occurring disorders and aggressive behaviour, but few studies have taken into account multiple mental and physical problems, as well as their level of severity. The main goal of this study was to identify the associations between different types of aggressive behaviour and various types of physical and mental health problems. These associations were explored through a cross-sectional study of 296 adult men and women with mild or moderate ID living in the community and receiving ID services. Information was gathered through interviews with ID participants, case managers and file review. The results show that individuals with ID who have more mental and physical health problems have higher odds of displaying aggressive behaviour than those with fewer and less severe physical health problems. These results can help guide future prevention and intervention strategies for persons with ID who display aggressive behaviour or who are at risk of become aggressive.

Late onset psychogenic nonepileptic attacks

To investigate differences between groups of patients with early vs late onset psychogenic nonepileptic attacks (PNEA). The authors compared patients with onset of PNEA after age 55 years (n = 26) to patients whose onset of PNEA was before age 55 years (n = 241). The authors examined sociodemographic variables, factors potentially predisposing to PNEA, clinical semiology, and medical and psychiatric background. Patients with late onset PNEA were more likely to be male (p = 0.029) (p values are quoted uncorrected for multiple comparisons). They were less likely to report antecedent sexual abuse (p = 0.008), and more likely to have severe physical health problems (p < 0.001) and to report health-related traumatic experiences (p < 0.0001). There were no clear differences in PNEA clinical semiology. There was a trend to better baseline mental health in the late onset group. The data suggest a distinct subgroup of patients with late onset psychogenic nonepileptic attacks, in whom psychological trauma related to poor physical health plays a prominent role.