Mavacamten: A Review of a Novel Therapeutic Approach for Hypertrophic Cardiomyopathy.

Hypertrophic Cardiomyopathy (HCM) is a heart disease that can cause left ventricular hypertrophy, arrhythmias, heart failure, and sudden cardiac death. Currently, pharmacological treatment is limited and ineffective. Mavacamten (CamzyosTM) is a cardiac myosin inhibitor developed as a therapeutic option to reduce myocardial contractility and restoration of myocardial function. The Food and Drug Administration (FDA) approved the use of Mavacamten in 2022 for HCM symptoms. Clinical studies have proven that Mavacamten can reduce Left Ventricular Outflow Tract (LVOT) involvement, cardiac hypercontraction, and hypertrophy. This review provides an overview of HCM, its pathophysiology, current treatments, synthesis of Mavacamten, and the clinical trials of Mavacamten.

Successful use of a patient specific 3D-printed biomodel as surgical guide for excision of juvenile nasopharyngeal angiofibroma extending to skull base: A case report.

Background: 3-Dimensional (3D) printing has proven its role in various fields. Recently, 3D printing has also been introduced in the otolaryngology domain. The nasopharynx, paranasal sinuses, and the anterior skull base have a complex anatomy. Critical structures must be delicately protected and preserved during a surgical procedure. It is, therefore, very important for the surgeon to have an excellent spatial understanding of the complex surgical field that is being traversed. Case Description: Our case is of a 19-year-old male with a 2-month history of recurrent epistaxis, nasal blockage, and headache. Based on the computed tomography scan and the clinical presentation, the patient was diagnosed with juvenile nasopharyngeal angiofibroma. The patient underwent angioembolization of the tumor followed by endoscopic surgical resection. The patient remained stable postoperatively and demonstrated a good recovery in the follow-up visit with no signs of cranial deficits. This case report highlights the use of a patient-specific 3D-printed biomodel to visualize this rare tumor of the nasopharynx. The benefits of using the model in surgical planning, patient education, and resident training are reported. We found that the ability to visualize the tumor on a tangible model, viewing its actual size in relation to the adjacent anatomy and all the structures associated with it, greatly enhances the surgeon's capacity to tackle such a difficult tumor endoscopically. Conclusion: Incorporating 3D-printed biomodels in surgical practice should result in improved outcomes for the patients.

Impact of Perfectionism and Resilience on Empathy in Medical Students: A Cross-Sectional Study.

Empathy is a cognitive attribute that forms the cornerstone for good doctor-patient encounters. The formative period for the development of empathy toward patients begins with clinical encounters within medical school. An individual medical student's empathy levels may in part be a product of their resilience and perfectionist attitudes. A cross-sectional study with 320 medical students across all years of study was conducted to determine the correlation of perfectionism and resilience with clinical empathy in medical students. The JSE-S, CD-RISC 10, and APS-R scales were used to assess levels of empathy, resilience, and perfectionism, respectively. The study found that a positive correlation exists between resilience (r = 0.174) and academic year with empathy, and a negative correlation exists between maladaptive perfectionism and empathy (r = -0.138). The resilience score declined progressively as the year of study progressed with a statistically significant. Mean empathy scores were lowest in fifth-year students (96.8 ± 12.5) and highest in third-year students (107.8 ± 13.2). Further longitudinal studies are necessary to better understand the impact of resilience and perfectionism on empathy.

Post-COVID-19 Acute Transverse Myelitis: A Case Report and Literature Review.

Acute transverse myelitis (ATM) following coronavirus disease 19 (COVID-19) is rarely reported in the literature. We report a case of ATM after COVID-19 infection in a female who presented with sudden onset bilateral lower limb weakness, paresthesia, and urinary retention. She developed fever, cough, dyspnea two weeks ago, and her COVID-19 test was positive one week later. After a complete physical examination and detailed investigations, including cerebrospinal fluid analysis, autoimmune screening, and infectious workup, a diagnosis of ATM due to COVID-19 was made. Magnetic resonance imaging of the whole spine confirmed the diagnosis of ATM. She was managed with intravenous methylprednisolone, physical therapy, and bladder training and her condition improved gradually.

"The psychological impact of COVID-19 on medical education of final year students in Pakistan: A cross-sectional study".

INTRODUCTION: COVID-19 pandemic has resulted in a strong impact on students' wellbeing, with associated uncertainty about the future. We conducted a cross-sectional survey to assess the psychological effects of COVID-19 on the medical education of final year students in Pakistan. METHODS: We conducted prospective, cross-sectional survey, as a snapshot, from June 07, 2020 till June 16, 2020, among final year medical and dental students. The 20-questions survey questionnaire was based on rating-scale items to focus on psychological symptoms, institutional preparedness for such crisis and confidence in becoming a future doctor. Descriptive statistics were calculated using Multivariate regression analysis. RESULTS: Majority of participants (n = 1753/2661, 65.9%) were female. Despite timely closure of institutes, delay in the start of the online teaching (beta coefficient 0.08, P-value 0.02) was significantly correlated with the depressive symptoms. A significant percentage of students (n = 1594, 59.9%) wanted a delay in exit exams due to intimidation. A similar proportion of students also lost confidence to be a competent doctor in future which was positively associated with male gender (beta coefficient 0.21, P-value < 0.001). CONCLUSION: Our study shows that COVID-19 pandemic has brought significant psychological influence on the medical education of final year students. Despite a stressful crisis, final year medical and dental students are still willing to serve the community. In addition to supporting their emotions and psychological wellbeing, stress counselling, and transforming current medical curricula is crucial to pursue ceaseless medical education and to become a safe future doctor.

Prevalence of Malaria reported during Summer and Winter at a Tertiary Care Hospital in Karachi, Pakistan.

This study was designed to determine the prevalence and type of malaria cases that presented throughout the year 2014 in a tertiary care hospital in Karachi, Pakistan. A total of 1099 cases, (377 females, 722 males) were reported. Plasmodium vivax (P. vivax) was discovered in 93.7% cases compared to 6.3% Plasmodium falciparum (P. falciparum). Based on the highest and lowest weather temperatures, in summer (June, July and August) and in winter (December, January and February) were differentiated. The number of cases were greater during summer months compared to winter. Interestingly, the ratio of P. falciparum to P. vivax during winter was greater compared to summer. Finally, there was a strong correlation between increasing humidity and number of malaria cases. These findings show that even though the incidence of malaria is higher in summer, malaria cases are still reported in winter. Furthermore, the probability of finding P. falciparum (which causes cerebral malaria ) is higher in winter.

Blood film says it all! Rare case of congenital TTP misdiagnosed as ITP.

We report a case of a 16-year-old female who presented with bleeding diathesis. Peripheral blood film examination was consistent with microangiopathic hemolytic anemia with 7% fragmented red blood cells. The ADAMTS13 level was 40 ng/ml (reference range: 630-850 ng/ml). She responded to plasma exchange therapy and methylprednisolone and was discharged in a stable condition.

Autism, ADHD and parent-reported behavioural difficulties in young children with epilepsy.

PURPOSE: To provide data on the prevalence of Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), and parent reported behaviour difficulties in young children with epilepsy, and to compare results with children with neurodisability (neurodevelopmental/neurological difficulties) without epilepsy. METHOD: Children with epilepsy (1-7 years, n = 48) and children with neurodisability (1-7 years, n = 48) matched for gender, chronological and developmental age underwent psychological assessment. Parents completed measures of behaviour including the Strengths and Difficulties Questionnaire (SDQ). DSM-5 diagnoses of ASD and ADHD were made at consensus case conferences. Factors associated with child behaviour were analysed using linear regression. RESULTS: Of the children with epilepsy, 18% met ASD criteria and 40% met ADHD criteria (corresponding figures in the non-epilepsy group were 41% and 27%). A large proportion (76%-78%) in both groups scored in the at-risk range on the SDQ and frequently had difficulties across multiple behavioural domains. Children with epilepsy had more concerns expressed regarding attention and mood. None of the epilepsy factors were significantly associated with scores on the behavioural measures. SIGNIFICANCE: Young children with epilepsy had a very high level of parent reported behavioural difficulties and a high risk for ADHD and ASD highlighting the need for comprehensive multidisciplinary assessment. Behavioural concerns were not greater than for other children with non-epilepsy related neurodisability with the exception of attention and mood. Epilepsy related factors were not associated with child behaviour, suggesting that seizures per se do not confer a unique risk for behavioural difficulties.

Global development and adaptive behaviour in children with early-onset epilepsy: a population-based case-control study.

AIM: There are limited population-based data on global development and adaptive behaviour in children with early-onset epilepsy. The aims of this study were: (1) to identify the prevalence of deficits in global development and adaptive behaviour experienced by children with early-onset epilepsy; (2) to identify factors associated with such deficits; and (3) to compare the relationship between measures of neurodevelopment in the group with epilepsy to a group without epilepsy who had other neurological or neurodevelopmental difficulties. METHOD: The Sussex Early Epilepsy and Neurobehaviour study is a prospective, community-based study involving children (1-7y) with epilepsy. We undertook comprehensive psychological assessment with participants, including measures of global development and adaptive behaviour. We compared the children with epilepsy with a sex, age, and developmentally-matched group of children without epilepsy who had neurodevelopmental or neurological difficulties using correlation matrices. RESULTS: Forty-eight children (91% of the eligible population) with epilepsy underwent assessment. Seventy-one per cent of children displayed delayed global development (<2SD) and 56% showed significant deficits (<2SD) in adaptive behaviour. Our analysis revealed that non-white ethnicity and use of polytherapy were independently associated with decreased scores on measures of global development and adaptive behaviour. The correlations between measures of developmental functioning were higher in children with epilepsy than in those without. INTERPRETATION: Children with early-onset epilepsy frequently have difficulties with global development and adaptive behaviour. The higher correlations between neurodevelopmental measures in children with epilepsy suggest that the profile in children with epilepsy is different. This may have significant implications for both neuropathology and interventions. WHAT THIS PAPER ADDS: Children with early-onset epilepsy are at significant risk of intellectual disability. Developmental impairment is associated with use of polytherapy but not with any seizure parameters. Developmental profiles in young children with epilepsy differ from other conditions.

Experiences and needs of parents of young children with active epilepsy: A population-based study.

The aim of the study was to gain a comprehensive understanding of the experiences and needs of parents of young children with epilepsy from a total population sample. The parents (mothers (n = 38), fathers (n = 9)) of 40/53 (75% of total population) young children (1-7 years; 23 males, 17 females) with 'active' epilepsy (had a seizure in the last year or taking Anti-epileptic drugs (AEDs)) were interviewed either in person or over the telephone using a semistructured interview schedule. The families were resident in the south of the UK. The interviews were audio-recorded, transcribed, and coded using thematic analysis. Thematic analysis revealed six main themes: diagnostic journey, parental perception of epilepsy management, awareness and impact of associated neurobehavioral difficulties, inconsistent availability of therapeutic and educational supports, impact on family functioning, and need for parental support. Parents reported often having difficulty accessing a professional knowledgeable about epilepsy. While parents were generally satisfied with the initial information they received about seizures and their management, they reported that the association between epilepsy and neurobehavioral issues was often not broached. These developmental/behavioral difficulties often had a bigger impact on child wellbeing and family functioning, but provision of therapeutic and educational supports for the difficulties was often very patchy. Parents noted that early onset epilepsy and associated neurobehavioral difficulties often have a very significant impact on family functioning including increased restrictions on family activities and increased financial burden. Parents would like informational and emotional support to extend beyond the time of epilepsy diagnosis. There is a clear need for comprehensive childhood epilepsy services to include provision for identification and management of child neurobehavioral needs and a focus on family-centered care.

Parenting stress and perceived stigma in mothers of young children with epilepsy: A case-control study.

The aim was to provide data on parenting stress and perceived stigma in mothers (n = 47) of young children with epilepsy, and to compare findings with those of mothers (n = 48) of developmental, age- and gender-matched children with nonepilepsy-related neurodisability (neurological and/or neurodevelopmental concerns). The mothers of young children (1-7 years) with epilepsy and mothers of children with neurodisability in a defined geographical area of the UK, completed the Parenting Stress Index-4th Edition (PSI-4) and a measure of perceived stigma. Factors associated with parenting stress and stigma were analyzed using linear regression. Thirty-eight percent of mothers of children with epilepsy scored in the at-risk range (>85th percentile) on the Total Stress score of the PSI-4 (Neurodisability 21%) (p = 0.06). Significantly more mothers of children with epilepsy scored in the at-risk range on the Parent-Child Dysfunctional Interaction subscale than mothers of children with neurodisability (Epilepsy 45% vs. Neurodisability 21%; p = 0.01), but not on the Parental Distress subscale (Epilepsy 32% vs. Neurodisability 23%; p = 0.33) or Difficult Child (Epilepsy 57% vs. Neurodisability 46%; p = 0.26) subscales. There was no statistically significant difference in perceived stigma between mothers in both groups (p = 0.51). Factors significantly associated with increased parenting stress in the group with epilepsy were child behavior difficulties (p < 0.001) and maternal sleep difficulties (p = 0.02). Lower child developmental level was the only factor independently associated with increased stigma in the group with epilepsy (p = 0.08). Mothers of young children with epilepsy report high levels of parenting stress and higher levels of difficulties with parent-child interaction compared with that of mothers of children with nonepilepsy-related neurodisability. Parenting stress and stigma in epilepsy were not associated with epilepsy factors. Efforts at reducing parenting stress and stigma should focus on interventions targeting child development and maternal sleep.

Child and parental sleep in young children with epilepsy: A population-based case-control study.

OBJECTIVE: To determine the prevalence of parent-reported sleep problems in young children with epilepsy and their parents, and to compare findings with those in a non-epilepsy-related neurodisability (neurodevelopmental/neurological difficulties) group. METHOD: Parents of young children (1-7 years) with epilepsy (n = 48 [91% ascertainment]) completed the Child Sleep Habits Questionnaire (CSHQ). Parents (mothers and fathers) also completed the Pittsburgh Sleep Quality Index (PSQI) and the Iowa Fatigue Scale (IFS) in relation to their own functioning. The responses of parents of children with epilepsy were compared with parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (n = 48). RESULTS: There was not a significant difference in the proportion of children with epilepsy and the children with neurodisability scoring in the at-risk range on the CSHQ (81% vs. 71% respectively) (p = 0.232). 62% of mothers and 44% of fathers of children with epilepsy had 'poor quality sleep' on the PSQI; there was not a significant difference between mothers of children with epilepsy and those of children with neurodisability (p = 0.526) or IFS (p = 0.245) total scores. However, mothers of children with epilepsy had significantly more difficulties on the productivity subscale of the IFS (p = 0.004). There were no significant differences between fathers' scores on either measure. In the epilepsy group, child behavioral problems (p = 0.001) were independently associated with child sleep difficulties and maternal mental health problems were associated with parental sleep difficulties (p = 0.04) and fatigue (p = 0.018). SIGNIFICANCE: Young children with epilepsy and their parents have a high rate of sleep difficulties. There is a need to develop effective interventions for this population, taking into consideration of the role of child behavioral problems and parental mental health difficulties.

Symptoms of depression, anxiety, and stress in parents of young children with epilepsy: A case controlled population-based study.

The objective was to provide population-based data on depression, anxiety, and stress in parents of young children with epilepsy and to compare findings with those of parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (neurological and/or neurodevelopmental concerns). The parents (mothers and fathers) of 47 (89% ascertainment) young children (1-7years) with epilepsy in a defined geographical area of the UK completed the Depression Anxiety Stress Scales - Short Form (DASS-21), a screening measure for depression, anxiety, and stress. The responses of parents of children with epilepsy were compared with parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (n=48). Factors associated with parental symptoms were analyzed using regression. In the group with epilepsy, 47 mothers and 39 fathers completed the DASS-21. Seventy-two percent of mothers scored in the at-risk range on at least one DASS-21 subscale (Fathers 49%). Mothers of children with epilepsy were significantly more likely to score in the at risk range than fathers on depression (55% vs. 33%), anxiety (47% vs. 26%), and stress (55% vs. 31%) subscales (all p<0.05). Mothers of children with epilepsy were also significantly more likely to score in the at-risk range than mothers of children with neurodisability on measures of depression (p=0.005) and stress (p=0.03). There was not a significant difference between fathers in both groups on any measures. In the group with epilepsy, increased child emotional-behavioral difficulties were associated with increased DASS-21 scores on multivariable analysis (p=0.04). Mothers of young children with epilepsy are at high risk for mental health difficulties, and all should be screened for such difficulties. There is a need to explore what parent and/or child focused interventions might be useful to reduce the mental health difficulties reported by mothers of young children with epilepsy.

Cold Agglutinins in Peripheral Blood with Atypical Cells with an Owl-Eye Appearance in Bone Trephine.

Autoimmune hemolytic anemia (AIHA) is a form of hemolytic anemia in which red cells lysis occurs due to presence of an autoantibody. Association of AIHA is well known with lymphoproliferative disorders, especially with non-Hodgkin's lymphoma. However, AIHA in association with Hodgkin's lymphoma is seen occasionally. Of the AIHA associated with Hodgkin's lymphoma, most are of warm type or mixed type. Cold AIHA, as seen in our case, is very rare in Hodgkin's lymphoma.

Disseminated histoplasmosis in an immuno-competent young male: Role of bone marrow examination in rapid diagnosis.

Fungal infections are usually seen in elderly or immuno-compromised individuals particularly with human immunodeficiency virus infection. In immuno-competent individuals, they seldom present with overt clinical symptoms. In such cases diagnosis is made by combination of tests along with direct microscopic visualization of the organism. We present a case of immuno-competent individual who presented with unexplained fever and found to have Histoplasma capsulatum infection on bone marrow examination.

Metachronous primary cancers of colon and stomach.

Synchronous or metachronous occurrence of esophageal, gastric and colonic cancers is a very rare occurrence, although there are several case reports in literature. A case of a 41 years old man with metachronous cancers of colon and stomach is reported.