A founder mutation in causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

Carbonic anhydrase VA (CA-VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no further recurrence of hyperammonemia with a favorable outcome. This retrospective cohort study reports 18 patients with CA-VA deficiency caused by homozygosity for a founder mutation, c.59G>A p.

The Safety of Novel Therapies in Chronic Lymphocytic Leukemia in the Era of Intermittent Fasting: A Pharmacology-Based Review.

Intermittent fasting (IF) has recently gained popularity due to its emerging benefits in reducing weight and improving metabolic health. Concurrently, novel agents (NAs) like venetoclax and Bruton tyrosine kinase inhibitors (BTKIs) have revolutionized the treatment of chronic lymphocytic leukemia (CLL). Unfortunately, it is unclear whether the associated risks of tumor lysis syndrome (TLS) and gastrointestinal bleeding (GIB) are increased in IF practitioners receiving NAs.

Evidence-Based Management of Chronic Lymphocytic Leukemia: Consensus Statements from the Gulf Region.

Introduction: Despite recent advances in diagnosis, prognostication, and treatment options, chronic lymphocytic leukemia (CLL) is still a largely incurable disease. New concepts on diagnosis, staging, treatment, and follow-up on CLL have been incorporated throughout recent years. The lack of regional consensus guidelines has led to varying practices in the management of patients with CLL in the region.

Fusion of Diffusion-Weighted Magnetic Resonance Imaging and High-Resolution Computed Tomography Scan As a Preoperative Tool for Classification of Middle Ear Cholesteatoma.

Background: The role of imaging in cholesteatoma continues to evolve with excellent bony details provided by high-resolution computed tomography and high soft tissue identification for cholesteatoma by diffusion-weighted magnetic resonance imaging. The fusion of highresolution computed tomography and diffusion-weighted magnetic resonance imaging combines the advantages of both imaging techniques.

Methods: A random sample of 40 consecutive patients with chronic suppurative otitis media with cholesteatoma was included in this study.

Characteristics and predictors of venous thrombosis recurrence in patients with cancer and catheter-related thrombosis.

Background: Central venous catheters raise the risk of catheter-related thrombosis (CRT) in patients with cancer, typically affecting the upper extremity. Management of CRT involves catheter removal and anticoagulation. However, robust evidence is lacking on the optimal timing of anticoagulation relative to catheter removal.

Novel missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

We report herein a child with transfusion-dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow features suggestive of congenital dyserythropoietic anemia (CDA). DNA studies, however, revealed the underlying condition to be due to a novel mutation in the gene responsible for pyruvate kinase deficiency (PKD).

Biallelic Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism.

Background: was proposed as a disease-causing gene of intellectual disability, spasticity, and parkinsonism.

Objectives: To characterize the clinical phenotype and the molecular cause of intellectual disability in four affected individuals of a consanguineous family.

Methods: Clinical evaluation, whole-exome sequencing, Sanger sequencing, reverse transcription polymerase chain reaction (PCR), real-time PCR, immunoblot, and isoelectric focusing.

Vaccine-induced immune thrombotic thrombocytopenia following AstraZeneca (ChAdOx1 nCOV19) vaccine-A case report.

Vaccination with ChAdOx1 nCov-19 can result in vaccine-induced immune thrombotic thrombocytopenia (VITT). This phenomenon mimics heparin-induced thrombocytopenia (HIT), yet it does not require heparin as a trigger. HIT screen/ELISA along with optical density and functional assay are useful in diagnosis.

EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.

Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder characterized by deficiency of branched-chain keto acid dehydrogenase complex, which is required to metabolize the three branched chain amino acids (BCAAs), leucine, isoleucine and valine. This metabolic dysfunction results in progressive encephalopathy manifesting with lethargy, vomiting, posturing and abnormal movements during the neonatal period in the classic form of the disease. If untreated, progressive brain damage causes coma, seizures and death usually within a few weeks.

Prominent hemophagocytosis in cerebrospinal fluid in a patient with pneumococcal meningitis.

Hemophagocytosis is usually observed in bone marrow. But it can be an incidental finding in other body fluids in severe infections like cerebrospinal fluid in case of meningitis. Clinicians need to rule out primary type of hemophagocytic syndrome.

Biomarkers in Routine Heart Failure Clinical Care.

Heart failure is a clinical condition with complex pathophysiology that involves many different processes. Diagnosis is often difficult in patients presenting for the first time with breathlessness. Many biomarkers have been identified that are elevated in heart failure and their role in assessing prognosis has also been investigated.

What is Heart Failure with Mid-range Ejection Fraction? A New Subgroup of Patients with Heart Failure.

Since the publication of European Society of Cardiology guidelines for the diagnosis and treatment of acute and chronic heart failure (HF) in 2016, a new class of HF has been defined, namely HF with mildly reduced ejection fraction (HFmrEF). Although the name was new, there had long been awareness of the existence of a grey area between the two established classes of HF: HF with reduced ejection fraction and HF with preserved ejection fraction. Patients between these two classes were previously either excluded from HF studies or were included in the other groups.

Large duodenal gastrointestinal stromal tumor presenting with acute bleeding managed by a whipple resection. A review of surgical options and the prognostic indicators of outcome.

Context: Duodenal gastrointestinal stromal tumors (GISTs) are uncommon and constitute a relatively small subset of GISTs which presents a unique dilemma having various surgical options. A case of a large ulcerating duodenal GIST arising from the second and third parts of the duodenum and involving the pancreas which was managed by a Whipple resection is presented. The literature is also reviewed to present the current status on surgical options, outcome, prognostic indicators and the role of imatinib mesylate in its management.

System reference electrode artifacts mimicking alpha coma and electrographic seizures in EEG.

We are presenting a patient with frequent seizures who required an intensive care admission for intubation and ventilation. The patient was monitored with 24-hour EEG and video for clinical and subclinical seizures. Her EEG showed artifactual changes which initially were interpreted as electrographic seizures.

A rare form of atrioventricular septal defect with severe subaortic stenosis.

An unusual form of atrioventricular septal defect associated with severe subaortic obstruction is reported in a neonate who presented with intractable cardiac failure. The baby had a large defect in the atrioventricular septum allowing communication from the left ventricle to the right atrium, without interatrial or interventricular communication, and a cleft anterior mitral leaflet. The baby expired despite palliative surgery performed to bypass the subaortic stenosis.