Results 21 to 30 of about 437,757 (267)

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Pallister–Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features ...
Amerh Salem Alqahtani   +12 more
doaj   +1 more source

Risk factors of breast cancer among patients in a tertiary care hospitals in Afghanistan: a case control study

open access: yesBMC Cancer, 2021
Background Breast cancer is the second most common causes of women’s death, worldwide. Data on risk factors associated with female breast cancer in the Afghan population is very limited. The aim of our study was to identifying risk factor associated with
Zekrullah Baset   +3 more
doaj   +1 more source

Health Literacy, Self‐Efficacy and Knowledge of Sickle Cell Disease Among Caregivers

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a hereditary blood disorder in which abnormal haemoglobin leads to severe anaemia, painful crises and organ failure. Caregivers’ health literacy (HL) – their ability to assess, understand and apply information, and interact with healthcare professionals – is crucial for managing children with SCD, yet ...
Melanie Bruinooge   +6 more
wiley   +1 more source

Mometasone Furoate–Induced Iatrogenic Cushing’s Syndrome and Secondary Adrenal Insufficiency: A Case Report

open access: yesCase Reports in Pediatrics
Intranasal corticosteroids (INCS) are widely used to treat allergic rhinitis and nasal obstruction. While their safety profile is generally well established, both local and systemic side effects can occur.
Anna Insalaco   +7 more
doaj   +1 more source

Hemorrhagic ulcerative gastric lymphangioma in an infant: A case report

open access: yesJournal of Pediatric Surgery Case Reports
Introduction: Lymphangiomas are congenital malformations of the lymphatic system, mostly presenting in the head and neck during early childhood. Its occurrence in the stomach is exceedingly rare with no reported cases in infants to date.
Mohammad Tareq Rahimi   +5 more
doaj   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte   +5 more
wiley   +1 more source

BMT4me En Español: Multisite Feasibility and Usability Testing of a Spanish‐Language mHealth Adherence Support App for Spanish‐Speaking Caregivers of Children After Hematopoietic Stem Cell Transplantation and Cancer Treatment

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Medication nonadherence during the first 100 days after pediatric hematopoietic stem cell transplantation (HSCT) and during oncology treatment increases risk for complications. BMT4me is a caregiver‐facing mobile health (mHealth) application providing medication reminders, symptom tracking, and note‐taking features to support ...
Micah A. Skeens   +4 more
wiley   +1 more source

Complex cytogenetic abnormalities in chronic myeloid leukemia resulting in early progression to blast crisis: a case report

open access: yesJournal of Medical Case Reports, 2020
Introduction BCR-ABL1, resulting from t(9;22), is the oncogenic driver of chronic myeloid leukemia and the therapeutic target of the disease. Molecular studies have been the gold standard modality for patient assessment since the advent of tyrosine ...
Haider Ali Malakzai   +6 more
doaj   +1 more source

Massive inguino-scrotal herniation of urinary bladder in an infant (scrotal cystocele)—case report

open access: yesRadiology Case Reports, 2020
Scrotal cystocele (massive inguino-scrotal herniation of urinary bladder) is an extremely rare event occurring in pediatric population. Authors present a case of a massive herniation of urinary bladder into the scrotum in a 1-year-old male infant who ...
Naqibullah Foladi, MD   +2 more
doaj   +1 more source

Rare additional chromosomal abnormalities in acute promyelocytic leukaemia resulting in rapidly fatal disease: report of a case

open access: yeseJHaem, 2022
Background Acute promyelocytic leukaemia results from reciprocal translocation between the long arms of chromosomes 15 and 17. This translocation leads to the formation of chimeric gene, which is both the diagnostic marker as well as the therapeutic ...
Ahmed Maseh Haidary   +15 more
doaj   +1 more source

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