Isolated Left Ventricular Diastolic Collapse Due to Extra-Thoracic Compression.

Isolated collapse of the left ventricle (LV) in diastole is not a very common finding on two-dimensional echocardiography. Reported cases in the literature were due to either loculated postoperative pericardial effusion/hematoma or left pleural effusion. To our knowledge, this is the first case report of LV diastolic collapse secondary to extra-thoracic compression.

Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine.

Introduction and importance: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder impacting multiple organs. Characterized by renal dysfunction, retinal dystrophy, obesity, polydactyly, intellectual disability, and hypogonadism, it lacks targeted treatment. Diagnosis relies on clinical criteria, and management emphasizes early detection, complication screening, and genetic counselling. Case presentation: A 4-year-old boy, born to first-cousin parents, presented with refractory iron-deficiency anaemia (IDA) and recurrent respiratory infections. Prenatal ultrasound revealed renal and limb anomalies. Physical examination showed dysmorphic features, polydactyly, and a giant-congenital naevus. Genetic testing revealed a homozygous MKKS variant. Despite oral iron, severe IDA persisted. Intravenous iron therapy yielded significant improvement. Clinical discussion: BBS, an autosomal recessive ciliopathy, involves various genes. In this case, the MKKS gene variant contributed to the syndrome. The incidence of BBS in the Arab population is discussed, emphasizing its rarity and varied clinical presentations. Incidence in the Arab population, including Palestine, is 1 in 13 500. Diagnostic criteria, encompassing major and minor features, highlight BBS complexity. Renal anomalies, visual disturbances, and cutaneous manifestations are common. Multidisciplinary care addresses systemic involvement with emerging treatments like setmelanotide. Conclusion: This case underscores BBS's rarity and complexity, featuring unique aspects like giant nevi and refractory IDA. Comprehensive management addresses renal, visual, cardiac, and neurologic aspects. Genetic counselling, prenatal testing, and preimplantation genetic diagnosis prevent transmission. Limitations include lacking local epidemiological data and prior studies in Palestine. This case contributes insights, stressing multidisciplinary management and prompting further research in underexplored populations.

Models of practice and training in psychotherapy: cross-national perspectives from Italy and Canada.

Internationally, there is ongoing concern about accessibility to mental health care and training. The goal of this study was to explore commonalities and differences within models of clinical psychology and psychotherapy in Ontario, Canada, and Lombardia, Italy, respectively, to inform improvements to the accessibility of mental health care and training. Using key informant sampling, we recruited ten students and professionals in Italy and Canada who study or work in psychology for semi-structured interviews. We analyzed the interview content using an inductive approach for thematic analysis within countries and meta-theme analysis across countries. The findings indicated three cross-national meta-themes: the need to integrate evidence with practice, the limited accessibility of training for students and treatment for patients, and the importance of the quality of training programs. Despite some differences regarding the amount of scientific training, personal therapy for trainees, and the prominence of cultural diversity training, Canadian and Italian psychology professionals and students shared experiences of psychotherapy practice and clinical psychology training. The three cross-national meta-themes indicate which issues in training and practice may be relevant worldwide and where to focus resources. The findings can inform international collaborations regarding training model structures that may increase access to psychology training and may increase consensus on professional recognition standards to improve mobility for professionals. These changes could reduce barriers to mental healthcare services for patients.

A comparison of artificial intelligence-based algorithms for the identification of patients with depressed right ventricular function from 2-dimentional echocardiography parameters and clinical features.

BACKGROUND: Recognizing low right ventricular (RV) function from 2-dimentiontial echocardiography (2D-ECHO) is challenging when parameters are contradictory. We aim to develop a model to predict low RV function integrating the various 2D-ECHO parameters in reference to cardiac magnetic resonance (CMR)-the gold standard. METHODS: We retrospectively identified patients who underwent a 2D-ECHO and a CMR within 3 months of each other at our institution (American University of Beirut Medical Center). We extracted three parameters (TAPSE, S' and FACRV) that are classically used to assess RV function. We have assessed the ability of 2D-ECHO derived parameters and clinical features to predict RV function measured by the gold standard CMR. We compared outcomes from four machine learning algorithms, widely used in the biomedical community to solve classification problems. RESULTS: One hundred fifty-five patients were identified and included in our study. Average age was 43±17.1 years old and 52/156 (33.3%) were females. According to CMR, 21 patients were identified to have RV dysfunction, with an RVEF of 34.7%±6.4%, as opposed to 54.7%±6.7% in the normal RV population (P<0.0001). The Random Forest model was able to detect low RV function with an AUC =0.80, while general linear regression performed poorly in our population with an AUC of 0.62. CONCLUSIONS: In this study, we trained and validated an ML-based algorithm that could detect low RV function from clinical and 2D-ECHO parameters. The algorithm has two advantages: first, it performed better than general linear regression, and second, it integrated the various 2D-ECHO parameters.

Ventricular late potentials among thalassemia patients.

BACKGROUND: Iron induced cardiac abnormalities remain the number one cause of death among thalassemia major (TM) patients. Signal averaged ECG (SAECG) was suggested to predict ventricular tachycardia as the underlying substrate for up to 5% incidence of sudden cardiac death among TM patients. The prevalence of ventricular late potentials (VLP) among different TM populations varied (3-31%); therefore to further clarify this we here describe the incidence of VLP among TM patients over a 7 year follow up period (1997 to 2004). METHODS: 26 TM patients were randomly selected from a group of 240 TM patients. SAECG, regular ECG, echocardiography-Doppler were analyzed during the study period. Ferritin levels and cardiac complaints were registered from an interview and chart review. RESULTS: Mean QRS duration increased from 89.23 (+/-10.60) ms in 1997 to 94.27 (+/-10.91) in 2004 (p<0.01), mean late amplitude signal (LAS) duration increased from 23.04 (+/-7.68) ms in 1997 to 27.69 (+/-6.82) ms in 2004 (p=0.01), whereas mean root mean square voltage RMS decreased from 80.85 (+/-51.19) mV in 1997 to 45.12 (+/-21.42) mV in 2004 (p<0.01). Changes in QRS duration and RMS voltage were found to be linearly correlated with average of ferritin over years (r=0.38, p=0.03 and r=-0.47, p=0.01 respectively); and only 1 patient developed VLP over 7 years. CONCLUSION: The incidence of VLP is 3.8% in the TM population over 7 years, despite the presence of significant changes in all SAECG criteria. RMS voltage and QRS duration changes over time seem to be related to iron overload measured by ferritin level.