Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers.

In children with hypertrophic cardiomyopathy (HCM), the genotype-phenotype association of abnormal electrocardiographic (ECG) features in the backdrop of gene positivity has not been well described. This study aimed to describe the abnormal ECG findings in children with HCM harboring who have genetic variants and determine the association with major adverse cardiac events (MACE). We retrospectively analyzed 81 variants-positive, phenotype-positive (V+P+), 66 variant-positive, phenotype-negative (V+P-), and 85 non-sarcomeric subjects. We analyzed ECG findings and clinical outcomes in the three groups of subjects. Repolarization abnormalities (ST and T wave changes) and pathologic Q waves were the most common abnormalities in variant and non-sarcomeric subjects. The V+P+ group showed higher occurrence of ST segment changes and T wave abnormalities compared to V+P- group. Independent predictors of MACE included ST segment changes (OR 3.54, CI 1.20-10.47, p = 0.022). T wave changes alone did not predict outcome (OR 2.13, CI 0.75-6.07, p = 0.157), but combined repolarization abnormalities (ST+T changes) were strong predictors of MACE (OR 5.84, CI 1.43-23.7, p = 0.014) than ST segment changes alone. Maximal wall z score by echocardiography was a predictor of MACE (OR 1.21, CI 1.07-1.37, p = 0.002). Despite the presence of significant myocardial hypertrophy (z score > 4.7), voltage criteria for LVH were much less predictive. In the non-sarcomeric group, RVH was significantly associated with MACE (OR 3.85, CI 1.08-13.73, p = 0.038). These abnormal ECG findings described on the platform of known genetic status and known myocardial hypertrophy may add incremental value to the diagnosis and surveillance of disease progression in children with HCM. Select ECG findings, particularly repolarization abnormalities, may serve as predictors of MACE in children.

Prospective of Pancreatic Cancer Diagnosis Using Cardiac Sensing.

Pancreatic carcinoma (Ca Pancreas) is the third leading cause of cancer-related deaths in the world. The malignancies of the pancreas can be diagnosed with the help of various imaging modalities. An endoscopic ultrasound with a tissue biopsy is so far considered to be the gold standard in terms of the detection of Ca Pancreas, especially for lesions <2 mm. However, other methods, like computed tomography (CT), ultrasound, and magnetic resonance imaging (MRI), are also conventionally used. Moreover, newer techniques, like proteomics, radiomics, metabolomics, and artificial intelligence (AI), are slowly being introduced for diagnosing pancreatic cancer. Regardless, it is still a challenge to diagnose pancreatic carcinoma non-invasively at an early stage due to its delayed presentation. Similarly, this also makes it difficult to demonstrate an association between Ca Pancreas and other vital organs of the body, such as the heart. A number of studies have proven a correlation between the heart and pancreatic cancer. The tumor of the pancreas affects the heart at the physiological, as well as the molecular, level. An overexpression of the SMAD4 gene; a disruption in biomolecules, such as IGF, MAPK, and ApoE; and increased CA19-9 markers are a few of the many factors that are noted to affect cardiovascular systems with pancreatic malignancies. A comprehensive review of this correlation will aid researchers in conducting studies to help establish a definite relation between the two organs and discover ways to use it for the early detection of Ca Pancreas.

Digital Pulmonology Practice with Phonopulmography Leveraging Artificial Intelligence: Future Perspectives Using Dual Microwave Acoustic Sensing and Imaging.

Respiratory disorders, being one of the leading causes of disability worldwide, account for constant evolution in management technologies, resulting in the incorporation of artificial intelligence (AI) in the recording and analysis of lung sounds to aid diagnosis in clinical pulmonology practice. Although lung sound auscultation is a common clinical practice, its use in diagnosis is limited due to its high variability and subjectivity. We review the origin of lung sounds, various auscultation and processing methods over the years and their clinical applications to understand the potential for a lung sound auscultation and analysis device. Respiratory sounds result from the intra-pulmonary collision of molecules contained in the air, leading to turbulent flow and subsequent sound production. These sounds have been recorded via an electronic stethoscope and analyzed using back-propagation neural networks, wavelet transform models, Gaussian mixture models and recently with machine learning and deep learning models with possible use in asthma, COVID-19, asbestosis and interstitial lung disease. The purpose of this review was to summarize lung sound physiology, recording technologies and diagnostics methods using AI for digital pulmonology practice. Future research and development in recording and analyzing respiratory sounds in real time could revolutionize clinical practice for both the patients and the healthcare personnel.

Covid-19 Induced Catatonia: A Review Of This Rare Phenomenon.

BACKGROUND: Catatonia is a psychomotor syndrome characterized by numerous clinical features, a few being stupors which is the most common sign, posturing, forced grasping, echopraxia, etc. There have been cases documented in the literature of Catatonia occurring with COVID-19. This article will focus on the complete and brief overview of catatonia observed in patients with COVID-19 infection. METHODS: We outline the evidence of the pathophysiology of COVID-19 in the CNS system, the effect of the virus in inducing catatonia, and its outcome. The literature used in the article is mostly case reports from different parts of the world thus; we have generalized our review taking into consideration multiple factors. RESULTS: In patients with COVID-19, neuropsychiatric manifestations are very commonly appreciated. Catatonia has been documented in many patients along with respiratory symptoms such as fever, shortness of breath, and cough. There are multiple etiologies associated with this presentation which have been discussed in detail in this article. In many patients, there was no history of any psychiatric illness. The timing of presenting with catatonic features was also different for different individuals. CONCLUSIONS: COVID-19 has been believed to contribute to the presentation of catatonia. There is no specific timeline between the onset of symptoms and the presence of COVID-19 infection. However, coronavirus can be responsible in a few ways for inducing catatonia in patients with or without any previous psychiatric illness. Therefore, COVID-19 should be considered as one of the major factors in this complex psychiatric disease, catatonia.

Fetal Congenital Heart Block Associated With Maternal Primary Systemic Lupus Erythematosus and Sjogren's Syndrome.

Congenital heart block is a grave condition reported in 0.5% of 100 live births. Systemic lupus erythematosus (SLE) and Sjogren's syndrome (SS) are chronic autoimmune and inflammatory condition, which affects multiple systems. The association of SLE and SS with pregnancy has been seen in the past. Usually, it shows anti-Ro/SSA and anti-Ro/SSB auto-antibodies in maternal serum, which is proportional to fetal Outcome. In this report, we present a case of a 29-year-old female gravida 4, para one and aborta 3, with a history of polycystic ovarian disease and multiple abortions. At 20 weeks of gestation, her antenatal examination revealed fetal bradycardia and heart block, which further led to SLE and SS diagnosis in her. She was treated with steroids to prevent further fetal complications. The patient delivered a healthy neonate at 38 weeks of gestation. The neonate eventually received a cardiac pacemaker and is now on regular follow-up.

Risk Factors of Peripheral Vascular Disease in Diabetes Mellitus in Abbottabad, Pakistan: A Cross-Sectional Study.

Introduction Diabetes mellitus (DM) is a significant and common risk factor for the development of peripheral vascular disease (PVD). Peripheral vascular disease is the atherosclerotic narrowing of peripheral arteries and has a high prevalence among patients with diabetes. Material and methods A cross-sectional study was conducted in the Department of Medicine of Ayub Teaching Hospital, Abbottabad. A total of 271 diagnosed diabetic patients aged 40 years or above were included in the study. Ankle-brachial pressure index (ABPI) was measured using a hand-held Doppler device and sphygmomanometer. An ABPI < 0.9 was taken to be abnormal. The risk factors were noted through history taking, physical examination, and appropriate investigations.  Results Our study sample included 271 patients. A hundred and forty-five (53.5%) of them were males, and 126 (46.5%) were females. Fifty-three (19.9%) out of 271 patients had peripheral vascular disease. The prevalence of peripheral vascular disease was stratified among smoking (p=0.00), hypertension (p=0.00), obesity (p=0.004), and hypercholesterolemia (p=0.005) to determine if there was any association between these and peripheral vascular disease. A p-value less than 0.05 was taken to be significant. Conclusion This study showed a significant association between PVD and smoking, hypertension, hypercholesterolemia, and obesity.

Ileocecal Valve Atresia - A Take on the Aberrant Phenomenon.

Ileocecal valve atresia is the most uncommon yet remarkable form of the atresia found within the gastrointestinal system. We report a case on this rare entity with few cases documented in the literature to date. In our case, a one-day-old full-term male infant who developed the signs of intestinal obstruction was eventually taken for emergency laparotomy. The atretic area found intraoperatively was removed followed by the creation of an anastomosis. The patient recovered well postoperatively and continues regular pediatric follow-ups.

Syndrome of Inappropriate Antidiuretic Hormone Secretion-Induced Encephalopathy in a Patient With COVID-19.

Various electrolyte imbalances have been documented in coronavirus disease 2019 (COVID-19) patients who progress to severe acute respiratory syndrome coronavirus-2 infection. Patients with co-morbidities like diabetes, hypertension, obesity, ischemic heart disease, chronic kidney disease, and chronic obstructive pulmonary disease are more vulnerable to developing complications in the form of electrolyte disturbance. We report a case of acute severe hyponatremia in a middle-aged man who was admitted to the hospital with viral pneumonia due to a coronavirus-2 infection. A dramatic drop of plasma sodium was preceded by gastrointestinal symptoms and followed by encephalopathy. On clinical assessment his plasma sodium was found to be critically low, i.e. 105 mmol/L. His chest x-ray showed minimal pleural effusion. The patient was managed in the ICU and his serum sodium was normalized gradually with partial but rapid correction of this severe hyponatremia with hypertonic sodium chloride and followed by fluid restriction.

The Curious Case of Lennox-Gastaut Syndrome: Treatment-Resistant Seizures in a Patient With Autism Spectrum Disease With Lennox-Gastaut Syndrome.

Lennox-Gastaut syndrome (LGS) is a childhood epilepsy disorder seen between the ages of one to eight years with the electroencephalogram (EEG) changes showing slow spiked-wave complex bursts or paroxysms of generalized fast activity and intellectual disability and often needing multiple lines of treatment. Autism spectrum disease (ASD) is rare but catastrophic comorbidity seen in a patient with LGS. We report an eight-year-old boy presenting to the emergency department with seizures and mental retardation. His first seizure was at the age of five months but was symptomatically treated without any specific diagnosis. On further investigation, the patient was diagnosed with LGS with concomitant ASD. The patient has successfully been treated for his treatment-resistant seizures and is now on regular follow-ups. This article aims to highlight this rare combination of LGS along with ASD and understand the disease course.

The Unfamiliar Case of COVID-19 Induced Cerebral Venous Sinus Thrombosis in a Pediatric Patient.

The SARS-CoV-2 virus responsible for COVID-19 infection has affected the world from the end of 2019 with pulmonary and extrapulmonary manifestations. Hematologic complications are a rare but severe complication of the COVID-19 infection. There have been very few cases reported in the past showing thrombotic complications in the pediatric age group. We present a case of a 12-year-old male child showing cerebral venous sinus thrombosis (CVST) who tested positive for COVID-19 at the same time. We highlight the potential of this complication in the pediatric age group and discuss the treatment, which is an infrequent phenomenon.

Hyponatremia: An Untimely Finding in Ovarian Hyper-Stimulation Syndrome.

In-vitro fertilization (IVF) is one of several methods to assist individuals to conceive. This is a case of a young lady who presented to the emergency department with a one-day history of mild abdominal pain, vomiting, and tiredness. She had undergone uneventful IVF with an embryo transfer procedure in a specialized center three days earlier. The initial clinical examination was unremarkable, but laboratory investigations showed low serum sodium and albumin levels with relatively high leucocyte count. Considering the recent history of IVF coupled with the deranged laboratory results, the patient was admitted to the hospital for further assessment and evaluation. On the second day, the patient developed severe abdominal pain and distension and she became more distressed. A diagnosis of ovarian hyperstimulation syndrome (OHSS) was established and the patient was admitted to the intensive care unit (ICU) as her condition deteriorated thereafter. Twelve days later, the patient was discharged from the hospital after a full recovery.

Popliteal Pterygium With Van Der Woude Syndrome.

Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. VW syndrome-affected children are born with a cleft lip or palate, hypodontia (absent teeth), and bilateral paramedian lower-lip pits, which are usually moist because they are often associated with accessory salivary glands and mucous glands that empty into the pits. Popliteal pterygium syndrome (PPS), also known as a fasciogenito-popliteal syndrome or popliteal web syndrome is a rare autosomal dominant disorder with an incidence of approximately 1 in 300,000 live births. The most common clinical manifestations are popliteal webbing, cleft palate, cleft lip, syndactyly, and genital and nail anomalies. This report describes the clinical features in one case with positive family history, showing the range of anomalies found in popliteal pterygium with VWS.

Maculopapular skin eruptions associated with Covid-19: A systematic review.

In this systematic review, we anticipated in summarizing clinical features, histopathological hallmarks, and possible pathology behind the maculopapular skin eruptions occurring in Covid-19 patients. A literature search was executed using MEDLINE/PubMed and Embase databases for articles published till 20 November 2020. All eligible articles including observational studies, case reports, and case series reporting the maculopapular skin lesion in Covid-19 patients were included. Data were obtained for 354 Covid-19 patients presenting with maculopapular lesions from 40 studies. The mean age of these patients was 53 years, and with 42% of them being male. These maculopapular lesions differed considerably in terms of distribution and appearance, ranging from diffuse erythematous maculopapular lesions to scattered erythematous macules coalescing into papules to maculopapular lesions in plaques. The mean duration of the lesion was 8 days. These lesions were frequently localized on trunks and extremities. Superficial perivascular dermatitis with lymphocytic infiltrate was a histopathological hallmark of these lesions. As these skin lesions may have a possible association with diagnosis, management, prognosis, and severity of the disease, all health practitioners need to be well acquainted with these Covid-19 skin lesions. Also, in the middle of this worldwide pandemic, early identification of this eruption may help manage this infection's further spread.