A case of Jordans' Anomaly of leucocytes is reported in a young boy with congenital ichthyosis and hepatosplenomegaly. Cytoplasmic vacuoles were seen in granulocytes, monocytes and lymphocytes of the patient and his father. Serum triglyceride was found elevated in the child but not in the father. Ultrasonogram of the patient's liver showed features suggestive of fatty change, thus pointing to a possible abnormality of systemic triglyceride storage.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF02727182 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Meta-analysis and systematic review for the genetic basis of cleft lip and palate.
J Oral Biol Craniofac Res
January 2025
Researcher at the Egyptian Ministry of Health, PO Box 2111, Tanta, Egypt.
Cleft lip and palate (CLP) are a usually inherited anomaly described as a gap in the oral cavity's upper lip and/or roof. The etiology of CLP involves both genetic and environmental factors. The current study aimed to examine the genetic basis of nonsyndromic (NS) CLP (NSCL/P) and its association with specific genetic polymorphisms.
View Article and Find Full Text PDFA composite socioeconomic deprivation index from survey data: associations with health outcomes and disparities.
medRxiv
October 2024
National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, Maryland, USA.
Socioeconomic deprivation - defined as a lack of social, economic and material resources - is associated with poor health outcomes and health disparities between population groups. The Research Program is a longitudinal cohort study of diverse participants from the United States, with demographic and social determinants of health data gleaned from participant surveys and health outcome data derived from electronic health records. We developed a composite index of socioeconomic deprivation (iSDI) using a cohort of 202,919 participants - based on education, employment, health insurance, housing, and income data - and we associated iSDI with health outcomes and disparities.
View Article and Find Full Text PDFGiant encephalocele in newborns: prenatal diagnosis, management and outcome.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Introduction: Patients with end-stage renal disease usually undergo hemodialysis as a way of renal function replacement therapy which comes with a wide array of systemic and cutaneous complications. The aim of this study was to evaluate the most frequent dermatological manifestations including xerosis, pruritis and other nail, hair and oral conditions, as these are a very important aspect to be considered while managing the patients psychological and physical needs to improve their outcomes and quality of life.
Methods: This retrospective cross-sectional study was performed by selecting 77 patients on hemodialysis based on a certain criteria and data was then collected on a sheet using patients database on Hakeem National E-Health Program, in addition to information from interviews with patients during their hemodialysis sessions after taking an oral informed consent and insuring patients' privacy.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!