The purpose of this report is to describe dental findings and treatment of an 11-year old male patient and a 5-year old female patient, children of first cousins, suffering from severe benign congenital chronic familial neutropenia. This case report emphazises the importance of differential diagnosis of immunodeficiencies including congenital chronic familial neutropenia in the background of severe periodontal diseases and/or diffuse carious lesions in children.
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http://dx.doi.org/10.17796/jcpd.31.2.x78245364736262k | DOI Listing |
Oncoscience
January 2025
McGill Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.
Importance: Cervical cancer is the fourth most common cancer among women globally and a significant cause of cancer-related deaths. Understanding the impact of cervical cancer diagnosed during pregnancy on maternal, delivery, and neonatal outcomes is crucial for improving clinical management and outcomes for affected women and their children.
Objective: To determine the effects of cervical cancer diagnosed during pregnancy on maternal, delivery, and neonatal outcomes using a population based, American database.
Biomedica
December 2024
Departamento de Alergología e Inmunología Clínica, Hospital Infantil de México Federico Gómez, Ciudad de México, México.
Introduction: Chronic granulomatous disease is a congenital immune disorder characterized by increased susceptibility to fungal and bacterial infections and dysregulated inflammation. It is caused by defects in the NADPH oxidase and EROS protein.
Objective: To characterize clinically and genetically four patients with chronic granulomatous disease at the Hospital Infantil de México Federico Gómez.
J Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Children's Hospital of Richmond, Virginia Commonwealth University, Richmond, VA 23298, USA.
Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition requiring daily medication(s) and attention to details. In addition to daily medications and regular visits with healthcare providers, families may live with perpetual angst regarding unpredictable occurrences of acute adrenal insufficiency. Despite numerous barriers and challenges imposed by this chronic condition, caregivers and healthcare professionals can empower our patients to achieve a good quality of life.
View Article and Find Full Text PDFJ Vet Intern Med
January 2025
Cummings School of Veterinary Medicine at Tufts University, North Grafton, Massachusetts, USA.
Background: Dogs with hepatocutaneous syndrome (HCS) have marked plasma hypoaminoacidemia, but its occurrence in dogs with chronic liver diseases not associated with HCS (non-HCS CLD) is unknown.
Objectives: To determine if plasma hypoaminoacidemia occurs in dogs with non-HCS CLD, compare plasma amino acid (PAA) profiles between dogs with non-HCS CLD and HCS, and define a sensitive and specific PAA pattern for diagnosing HCS.
Animals: Data were collected from client-owned dogs, a prospective cohort of 32 with CLD and 1 with HCS, and a retrospective cohort of 7 with HCS.
Ultraschall Med
January 2025
Otorhinolaryngology, Medical University of Innsbruck, University Hospital for Otorhinolaryngology (ENT), Innsbruck, Austria.
Diseases of the salivary glands are as common as they are diverse and can have different causes. Clinicians can differentiate salivary gland changes based on chronic systemic diseases, congenital and vascular malformations, and benign and malignant tumors. Acute infectious pathologies can also arise as a result of obstructive pathologies.
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