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A disparate group of rare hematological diseases characterized by impaired maturation of neutrophil granulocytes defines congenital neutropenias. Neutropenic patients are prone to recurrent infections beginning in the first months of life. Of interest is "cyclic neutropenia," an ultra-rare disorder revealed by sinusoidal variations in the neutrophil count and recurring infections every 21 days. Diagnosis of these disorders is frequently obscured by the multiple causes of recurrent fevers in children. The aim of this overview is to outline the physical assessment of children presenting with early-onset symptomatic neutropenia, identify the disease between the many medical conditions and even emergencies which should enter in differential diagnosis, hint at the potential management with granulocyte-colony stimulating factor, define the risk of evolution to hematologic malignancy, and summarize inter-professional team strategies for improving care coordination and outcomes of patients.
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http://dx.doi.org/10.4084/MJHID.2022.008 | DOI Listing |
Introduction: Advances in neonatology, neonatal surgery, and extracorporeal membrane oxygenation (ECMO) have improved the prognosis of congenital diaphragmatic hernia (CDH). However, CDH survivors are at considerable risk of long-term neurological morbidity. Magnetic resonance imaging (MRI) abnormalities are reported in up to 84% of CDH-survivors but have only been rarely compared with neurodevelopmental outcomes.
View Article and Find Full Text PDFGraefes Arch Clin Exp Ophthalmol
September 2025
Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Road, NE, Suite 2400, Atlanta, GA, 30322, USA.
Purpose: Congenital X-linked retinoschisis (XLRS) has limited treatment options. Gene augmentation via pars plana vitrectomy (PPV) and subretinal RS1 gene delivery is promising, yet it is unclear how PPV may impact outcomes. We explored literature to better understand PPV outcomes in XLRS.
View Article and Find Full Text PDFMol Genet Genomics
September 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012, Bern, Switzerland.
The aim of this study was to investigate three unrelated Simmental calves with atypical white coat color, identify potential genetic causes using a trio-based whole-genome sequencing approach, and assess the prevalence of the identified variants in the breed. Several inherited alleles affecting coat color, ranging from fawn to red spotted and white-headed, have been described in Simmental cattle originating from Switzerland. However, no genetic variant has yet been associated with an almost completely white coat in this breed.
View Article and Find Full Text PDFHum Genet
September 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China.
This study aims to assess the genetic burden of fetal congenital diaphragmatic hernia (CDH) and identify prenatal, perinatal, and postnatal predictors to improve early diagnosis, monitoring, and intervention. This study included 130 CDH fetuses who underwent invasive prenatal diagnosis, with fetal prognosis evaluated using imaging parameters such as observed-to-expected lung-to-head ratio (o/e LHR), observed-to-expected total lung volume (o/e TLV), and percent predicted lung volume (PPLV). Clinical outcomes included neonatal outcomes, extracorporeal membrane oxygenation (ECMO) requirement, and post-neonatal prognosis.
View Article and Find Full Text PDFWorld J Surg
September 2025
Kids Operating Room, Edinburgh, Scotland.
Background: Although prior studies have estimated the burden of pediatric surgical disease in low- and middle-income countries (LMICs) through statistical modeling and hospital- or household-based surveys, few large-scale descriptions of procedures and outcomes have been published. We aimed to describe the epidemiology and outcomes of children's surgical care at multiple centers across Africa.
Methods: Perioperative clinical data were collected prospectively from 2018 to 2023 at 17 hospitals in 11 African countries using a preexisting tool.