Results 71 to 80 of about 37,879 (224)

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source

Study of aetiological profile, clinical presentation and outcome of hepatosplenomegaly in children between 1 month and 14 years of age

, 2017
Background: Hepatosplenomegaly is the simultaneous enlargement of liver and spleen. Hepatosplenomegaly is a sign seen in various disease processes in infants and children.
Saroj Kumar Satpathy, Dipankar Mondal, Debasish Panigrahi, Jyotiranjan Champatiray   +3 more
core   +1 more source

Gaucher's disease: report of 11 cases with review of literature

The Pan African Medical Journal, 2015
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to
Laila Essabar, Toufik Meskini, Najat Lamalmi, Said Ettair, Naima Erreimi, Nezha Mouane   +5 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Seizure and Hepatosplenomegaly—Rare Manifestation of Parvovirus B-19: A Case Report and Review of the Literature [PDF]

, 2011
Parvovirus B19 is the etiologic agent of erythema infectiosum (fifth disease), a fever-rash illness occurring in childhood. We present a 10 month old child with high grade fever for 10 days, generalized tonic-clonic seizure, bilateral cervical ...
Gupta Pallav, Murari Manjula, Yadav Kamlesh, Malik Rohan   +3 more
core   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Precision immunomodulation for pediatric hemophagocytic lymphohistiocytosis in intensive care

Pediatric Investigation, EarlyView.
This review presents a bedside framework for recognizing pediatric hemophagocytic lymphohistiocytosis and cytokine storm, stabilizing organ dysfunction, identifying the underlying phenotype, selecting targeted immunomodulation, considering extracorporeal adjuncts, and reassessing response within 24–72 h. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH)
Weerapong Lilitwat, Prakreeti Bhandari
wiley   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

HIV Encephalopathy in Perinatally Acquired Disease

Pediatric Neurology Briefs, 1998
The incidence and clinical progression of HIV encephalopathy among 128 HIV-perinatally infected children were studied at multiple US centers by the Women and Infants Transmission Study Group.
J Gordon Millichap
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source