Barriers to Seeking Early Psychiatric Treatment amongst First-episode Psychosis Patients: A Qualitative Study

Aims: The aim of this study was to explore the family members' determinant of the delay in seeking psychiatric care to patients diagnosed with psychosis. Methods: Qualitative semi-structured interviews were carried out with twenty-seven family members of patients with psychosis at psychiatric outpatient clinics in Amman, Jordan. Results: The findings revealed that perceived stigma and fears about being labelled are the main barriers to requesting early psychiatric health care. The participants cited many different reasons linked to finding help led to delay in seeking help in the early stages of the illness including misattribution of the cause and symptoms of mental illness, family and financial factors. Conclusions: The study highlights the importance of enhancing knowledge about the schizophrenia-related spectrum to ensure patients seek treatment in a more timely manner.     

Assessment of Ventricular Functions by Tissue Doppler Echocardiography in Children with Asthma

Patients with asthma develop pulmonary hypertension due to recurrent hypoxia and chronic inflammation, leading to right heart enlargement with ventricular hypertrophy. Patients with severe asthma can experience cor pulmonale later in life, but little is known about ventricular function during the early stages of the disease. This study aimed to investigate ventricular functions in asymptomatic children with asthma as detected by conventional echocardiography and tissue Doppler echocardiography (TDE). Fifty-one pediatric patients (mean age 10.4 ± 2.2 years) with asthma and 46 age- and sex-matched healthy children (mean age 10.9 ± 2.4 years) were studied. All subjects were examined by conventional echocardiography and TDE, and they had pulmonary function tests on spirometry. The right-ventricular (RV) wall was statistically (p = 0.01) thicker among asthmatic patients (4.7 ± 1.5 mm) compared with healthy children (3.6 ± 0.4 mm). However, conventional pulsed-Doppler indices of both ventricles did not differ significantly between asthmatic patients and healthy children (p > 0.05). The results of TDE examining RV diastolic function showed that annular peak velocity during early diastole (E′), annular peak velocity during late diastole (A′) (16.4 ± 1.8 and 5.1 ± 1.4 cm/s, respectively), E′/A′ ratio (3.2 ± 0.7), isovolumetric relaxation time (67.7 ± 10.2 ms) and myocardial performance index (48.1 % ± 7.0 %) of the lateral tricuspid annulus among asthmatic patients differed significantly (p = 0.01) from those of healthy children (13.2 ± 2.3, 8.2 ± 2.0 cm/s, 1.6 ± 0.5, 46.2 ± 8.7 ms, and 42.0 % ± 5.7 %, respectively). Only peak expiratory flow (PEF) rate from the pulmonary function tests was negatively correlated with the E′/A′ ratio of the tricuspid annulus (r = ?0.38, p = 0.01). This study showed that although the findings of clinical and conventional echocardiography were apparently normal in children with asthma, TDE showed subclinical dysfunction of the right ventricle, which is negatively correlated with PEF. These findings signify the diagnostic value of TDE in the early detection and monitoring of such deleterious effects among asthmatic patients.     

Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. This study reports the molecular features of 257 patients enrolled in the PKD Natural History Study. Of the 127 different pathogenic variants detected, 84 were missense and 43 non-missense, including 20 stop-gain, 11 affecting splicing, five large deletions, four in-frame indels, and three promoter variants. Within the 177 unrelated patients, 35 were homozygous and 142 compound heterozygous (77 for two missense, 48 for one missense and one non-missense, and 17 for two non-missense variants); the two most frequent mutations were p.R510Q in 23% and p.R486W in 9% of mutated alleles. Fifty-five (21%) patients were found to have at least one previously unreported variant with 45 newly described mutations. Patients with two non-missense mutations had lower hemoglobin levels, higher numbers of lifetime transfusions, and higher rates of complications including iron overload, extramedullary hematopoiesis, and pulmonary hypertension. Rare severe complications, including lower extremity ulcerations and hepatic failure, were seen more frequently in patients with non-missense mutations or with missense mutations characterized by severe protein instability. The PKLR genotype did not correlate with the frequency of complications in utero or in the newborn period. With ICCs ranging from 0.4 to 0.61, about the same degree of clinical similarity exists within siblings as it does between siblings, in terms of hemoglobin, total bilirubin, splenectomy status, and cholecystectomy status. Pregnancy outcomes were similar across genotypes in PK deficient women. This report confirms the wide genetic heterogeneity of PK deficiency.