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About 35,355 results

Polyhydramnios associated with congenital bilateral vocal cord paralysis: A case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9857242
Medicine Choi MG, Kim YH et. al.

Jan 27th, 2023 - Polyhydramnios may develop when the fetus cannot swallow amniotic fluid or the amount of fetal urine increases. Occasionally, unpredictable fetal abnormalities can be diagnosed postnatally. Bilateral vocal cord paralysis in the fetus may cause polyhydramnios, which could be related to impaired prenatal swallowing. A 36-year-old multipara underwent an emergent cesarean section because of polyhyd...

Considering Antiviral Treatment to Preserve Hearing in Congenital CMV.
https://doi.org/10.1542/peds.2022-059895
Pediatrics Lanzieri TM, Pesch MH et. al.

Jan 26th, 2023 - Considering Antiviral Treatment to Preserve Hearing in Congenital CMV.|2023|Lanzieri TM,Pesch MH,Grosse SD,|therapeutic use,drug therapy,congenital,drug therapy,

Deficiencies in mismatch DNA repair: providing the soil for large-to-giant congenital m...
https://doi.org/10.1093/bjd/ljac037
The British Journal of Dermatology; Stark MS

Jan 24th, 2023 - Deficiencies in mismatch DNA repair: providing the soil for large-to-giant congenital melanocytic naevus development.|2023|Stark MS,|congenital,congenital,

Providing new insights into the causes of large-to-giant congenital melanocytic naevi.
https://doi.org/10.1093/bjd/ljac167
The British Journal of Dermatology;

Jan 24th, 2023 - Providing new insights into the causes of large-to-giant congenital melanocytic naevi.|2023||congenital,congenital,

An Infant With a Congenital Violaceous Plaque: Answer.
https://doi.org/10.1097/DAD.0000000000002326
The American Journal of Dermatopathology; Hatfield J, Saad S et. al.

Jan 21st, 2023 - An Infant With a Congenital Violaceous Plaque: Answer.|2023|Hatfield J,Saad S,Hendrick SJ,|congenital,

An Infant With a Congenital Violaceous Plaque: Challenge.
https://doi.org/10.1097/DAD.0000000000002325
The American Journal of Dermatopathology; Hatfield J, Saad S et. al.

Jan 21st, 2023 - An Infant With a Congenital Violaceous Plaque: Challenge.|2023|Hatfield J,Saad S,Hendrick SJ,|congenital,

Correlation of cytomegalovirus viral load between whole blood and plasma of congenital ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850601
BMC Infectious Diseases; Torii Y, Morioka I et. al.

Jan 20th, 2023 - Congenital cytomegalovirus (CMV) infection (cCMV) can cause sensorineural hearing loss and neurodevelopmental disabilities in children. Oral valganciclovir (VGCV) therapy has been reported to improve long-term audiological and neurodevelopmental outcomes in patients with cCMV. The levels of CMV DNA in whole blood have been monitored in previous studies. However, quantitative methods using whole...

Congenital Common Canalicular Lacrimal Fistula in an Asymptomatic Patient.
https://doi.org/10.1001/jamaophthalmol.2022.4943
JAMA Ophthalmology; Gupta Y, Bajaj MS

Jan 20th, 2023 - Congenital Common Canalicular Lacrimal Fistula in an Asymptomatic Patient.|2023|Gupta Y,Bajaj MS,|diagnostic imaging,surgery,diagnosis,surgery,congenital,diagnosis,

Propranolol Therapy for Congenital Chylothorax.
https://doi.org/10.1542/peds.2022-058555
Pediatrics Handal-Orefice R, Midura D et. al.

Jan 19th, 2023 - Congenital chylothorax is a rare and often severe anomaly without well-established medical therapies. Previously, propranolol use in patients with lymphatic malformations and secondary chylothorax was associated with improvement in clinical signs. We hypothesized that propranolol treatment would be beneficial for severe congenital chylothorax. We reviewed medical records of neonates born from 2...

Delayed finding of congenital duodenal obstruction following congenital diaphragmatic h...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9827180
BMJ Case Reports; Bethell GS, Fouad D et. al.

Jan 6th, 2023 - Congenital diaphragmatic hernia (CDH) is encountered in just under 1 in 6000 live births, while congenital duodenal obstruction is seen once every 8000 live births. These congenital anomalies have only been reported together as part of the VACTERL syndrome and therefore in isolation represent an incredibly rare occurrence. This is a case report of a girl born at 34 weeks gestation who had an an...

Congenital sodium diarrhoea caused by rare de novo activating guanylate cyclase mutation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9806026
BMJ Case Reports; Bajracharya S, Stich D et. al.

Dec 30th, 2022 - A male infant with prenatal history significant for polyhydramnios requiring multiple amnioreductions with suspicion of small bowel atresia was born at 31 weeks 5 days' gestation with abdominal distension. He underwent three exploratory laparotomies and ileostomy for small bowel obstruction and was found to have fluid-filled intestinal dilatation. Serum and stool chemistries suggested sodium se...

Histopathological and Immunohistochemical Features of Small to Big Satellite Nevus Unco...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9745446
Journal of Immunology Research; Gu J, Wei B et. al.

Dec 17th, 2022 - The nevogenesis of large/giant congenital melanocytic nevus (lgCMN) is a complex biological process including several integral prenatal stages. Limited by ethical concerns, the debate of whether lgCMN develops from the epidermis to the dermis or in the opposite direction remains controversial. With the present study of the accompanying satellite nevi, we tend to support that lgCMN develops from...

Phylogenetic analysis of congenital rubella virus from Indonesia: a case report.
https://doi.org/10.1186/s12887-022-03775-4
BMC Pediatrics; Herini ES, Triono A et. al.

Dec 14th, 2022 - Rubella is a common inherited infection resulting in congenital cataracts and a significant cause of permanent vision loss in developing countries. In 2016, Indonesia had the highest number of congenital rubella syndrome (CRS) cases globally. Here, we report the first genotype of the rubella virus extracted from the eye lens from a child with congenital cataracts due to CRS. A female neonate wa...

Genetics of severe congenital neutropenia as a gateway to personalized therapy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821599
Hematology. American Society of Hematology. Education Pro... Donadieu J, Bellanné-Chantelot C

Dec 10th, 2022 - Severe congenital neutropenias (SCNs) are rare diseases, and to date about 30 subtypes have been described according to their genetic causes. Standard care aims to prevent infections and limit the risk of leukemic transformation; however, several subtypes may have additional organ dysfunction(s), requiring specialized care. Granulocyte colony-stimulating factor and hematopoietic stem cell trans...

The incidence of congenital pseudarthrosis of the clavicle and review of the literature.
https://doi.org/10.1097/BPB.0000000000001024
Journal of Pediatric Orthopedics. Part B; Rehm A, Ashby E et. al.

Nov 30th, 2022 - The aim of this study was to identify the hitherto unknown incidence of congenital pseudarthrosis of the clavicle (CPC), based on a cohort of continuous livebirths born in our hospital, to review the literature and investigate if there is evidence supporting the published association between left-sided CPC and dextrocardia. From our electronic medical record and radiology databases, we identifi...

Imaging of Congenital/Childhood Central Nervous System Infections.
https://doi.org/10.1016/j.nic.2022.07.017
Neuroimaging Clinics of North America; Hwee TP, Koh Cheng T

Nov 21st, 2022 - This article highlights the changing profile of the pediatric patient with central nervous system infection as countries develop and the roles of different imaging modalities such as cranial ultrasound, MR imaging, and computed tomography. It discusses the commonly encountered congenital toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH) infections, Group B Streptococcal and Escher...

Rare interstitial lung disease in a preterm neonate with congenital lobar emphysema.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668016
BMJ Case Reports; Jayaram S, Abramovich C et. al.

Nov 16th, 2022 - Congenital lobar emphysema (CLE)/congenital alveolar overdistension/congenital lobar overinflation or infantile lobar emphysema is a rare developmental anomaly of the lower respiratory tract which is characterised by hyperinflation of one or more of the pulmonary lobes. Histopathology may be variable, which may show abnormality in the cartilage, granulation tissue, mucosal folds, etc. We report...

Estimation of the morbidity and mortality of congenital Chagas disease: A systematic re...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671465
PLoS Neglected Tropical Diseases; Matthews S, Tannis A et. al.

Nov 8th, 2022 - Chagas disease is caused by the parasite Trypanosoma cruzi which can be transmitted from mother to baby during pregnancy. There is no consensus on the proportion of infected infants with clinical signs of congenital Chagas disease (cCD). The objective of this systematic review is to determine the burden of cCD. Articles from journal inception to 2020 reporting morbidity and mortality associated...

The tilts, twists, and turns of torticollis.
https://doi.org/10.1097/MOP.0000000000001194
Current Opinion in Pediatrics; Gross PW, Chipman DE et. al.

Nov 8th, 2022 - The purpose of this review is to outline the most recent understanding of torticollis in the pediatric population. It is important to diagnose the underlying condition of torticollis early in childhood, as some conditions that cause torticollis may result in major developmental delays in early motor milestones. Recent studies have highlighted that many of the rarer causes of torticollis are oft...

Management of Congenital Lung Malformations.
https://doi.org/10.1016/j.clp.2022.08.003
Clinics in Perinatology; Hegde BN, Tsao K et. al.

Nov 4th, 2022 - Congenital lung malformations represent a spectrum of lesions, each with a distinct cause and tailored clinical approach. This article will focus on the following malformations: congenital pulmonary airway malformations, formally known as congenital cystic adenomatoid malformations, bronchopulmonary sequestration, congenital lobar emphysema, and bronchogenic cyst. Each of these malformations wi...