keyword
https://read.qxmd.com/read/38516355/case-report-profound-newborn-leukopenia-related-to-a-novel-rac2-variant
#1
Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J Kim-Chang, Paul L Martin, Amy P Stallings, John W Sleasman, Steven M Holland, Amy P Hsu, Thomas L Leto, Talal Mousallem
We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screens. Initial blood counts and lymphocyte flow cytometry revealed profound neutropenia and lymphopenia with a T-/B-/NK- phenotype. Red blood cell adenosine deaminase 1 activity was within normal limits. A presumptive diagnosis of reticular dysgenesis was considered...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38505727/congenital-cytomegalovirus-infection-in-a-preterm-infant-with-22q11-2-deletion-syndrome-and-immunological-abnormalities
#2
Yoshihiko Shitara, Etsushi Toyofuku, Hideki Doi, Takeo Mukai, Kohei Kashima, Satsuki Kakiuchi, Motohiro Kato, Naoto Takahashi
The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report a case of a preterm infant with congenital cytomegalovirus infection complicated with 22q11.2 deletion syndrome and immunological abnormalities. Ultrasonography revealed pulmonary atresia, ventricular septal defect, major aortopulmonary collateral artery, and thymic hypoplasia. His serum chemistry tests on admission revealed immunoglobulin G, A, and M levels of 1,547 mg/dL, 70 mg/dL, and 274 mg/dL, respectively...
February 2024: Nagoya Journal of Medical Science
https://read.qxmd.com/read/38406029/diagnosis-of-congenital-toxoplasmosis-challenges-and-management-outcomes
#3
JOURNAL ARTICLE
Ana Losa, Indira Carvalho, Bebiana Sousa, Joanna Ashworth, Ana Guedes, Luísa Carreira, Liliana Pinho, Cristina Godinho
Introduction Congenital toxoplasmosis (CT), despite being mostly subclinical at birth, can cause disabling disease in the fetus and lead to long-term sequelae. It is an important cause of chorioretinitis in infants and adolescents. Data on postnatal treatment are controversial, and there is a lack of universal guidelines. Methods A cross-sectional study of newborns with suspected CT was conducted between January 2007 and December 2021. Results Seventy-one patients with suspected CT were included. During pregnancy, 64 (90...
January 2024: Curēus
https://read.qxmd.com/read/38263289/an-il-10-del-1-axis-supports-granulopoiesis-and-survival-from-sepsis-in-early-life
#4
JOURNAL ARTICLE
Eleni Vergadi, Ourania Kolliniati, Ioanna Lapi, Eleftheria Ieronymaki, Konstantina Lyroni, Vasileia Ismini Alexaki, Eleni Diamantaki, Katerina Vaporidi, Eleftheria Hatzidaki, Helen A Papadaki, Emmanouil Galanakis, George Hajishengallis, Triantafyllos Chavakis, Christos Tsatsanis
The limited reserves of neutrophils are implicated in the susceptibility to infection in neonates, however the regulation of neutrophil kinetics in infections in early life remains poorly understood. Here we show that the developmental endothelial locus (DEL-1) is elevated in neonates and is critical for survival from neonatal polymicrobial sepsis, by supporting emergency granulopoiesis. Septic DEL-1 deficient neonate mice display low numbers of myeloid-biased multipotent and granulocyte-macrophage progenitors in the bone marrow, resulting in neutropenia, exaggerated bacteremia, and increased mortality; defects that are rescued by DEL-1 administration...
January 23, 2024: Nature Communications
https://read.qxmd.com/read/38256395/a-lithuanian-case-of-tyrosinemia-type-1-with-a-literature-review-a-rare-cause-of-acute-liver-failure-in-childhood
#5
Rūta Rokaitė, Agnė Čibirkaitė, Vykinta Zeleckytė, Gabija Lazdinytė, Mindaugas Dženkaitis
Hereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises. In the course of this disease, due to the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), toxic intermediate metabolites of tyrosine breakdown, such as fumarylacetoacetate (FAA), succinylacetoacetate (SAA), and succinylacetone (SA), accumulate in liver and kidney cells, causing cellular damage...
January 11, 2024: Medicina
https://read.qxmd.com/read/38137714/liver-dysfunction-with-severe-cholestasis-and-coagulation-disorders-in-the-course-of-hemolytic-disease-of-the-newborn-requiring-chelation-therapy-a-case-report-and-review-of-the-literature
#6
Agnieszka Drozdowska-Szymczak, Julia Proczka, Danuta Chrzanowska-Liszewska, Krzysztof Truszkowski, Natalia Mazanowska, Paweł Krajewski
Severe hemolytic disease of the fetus and newborn (HDFN) requiring intrauterine transfusions (IUTs) may cause iron accumulation, resulting in liver damage, which may lead to cholestasis and coagulation disorders. In this article, we reported a case of a female neonate who underwent chelation therapy with a positive outcome, and we reviewed the English and Polish literature on chelation therapy in HDFN available in PubMed. The patient with maximum ferritin concentration above 33,511.2 ng/mL developed liver dysfunction with coagulation disorders requiring multiple transfusions of fresh frozen plasma (FFP), Octaplex® and cryoprecipitate, and hypoalbuminemia treated with numerous albumin infusions...
December 13, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/38116592/rituximab-and-pregnancy-late-onset-neutropenia-in-a-2-month-infant-whose-mother-received-rituximab-2-weeks-prior-to-childbirth
#7
JOURNAL ARTICLE
Natalia Gonzalez Caldito, Edith L Graham, Elena Grebenciucova
Late-onset neutropenia (LON) is a rare adverse event that has not been reported from in utero exposure. We describe a case of LON in an infant, whose mother had neuromyelitis optica and received rituximab in the third trimester due to re-emergence of CD19 B cells. The newborn was born without complications but 2 months later was found to have grade IV neutropenia. No etiology was identified. Neutropenia self-resolved within 1 week. This case emphasizes an unmet need for developing guidelines and protocols to manage in utero rituximab exposure...
November 24, 2023: Multiple Sclerosis: Clinical and Laboratory Research
https://read.qxmd.com/read/37885560/acinetobacter-baumannii-early-onset-sepsis-after-home-delivery-into-toilet-water
#8
Patrícia Sousa, Beatriz Sousa, Francisca Calheiros-Trigo, Mariana Martins, Clara Paz-Dias
Early-onset sepsis (EOS) is an important cause of morbidity and mortality in newborns, usually caused by pathogens acquired intrapartum. We present the case of a term neonate born by home delivery in the toilet, after an unsupervised pregnancy. He developed a culture-proven early-onset sepsis caused by Acinetobacter baumannii . This was the first case of neonatal sepsis by this pathogen in our unit. The microorganism was susceptible to all antibiotics tested. The neonate was treated empirically with ampicillin and cefotaxime and completed 21 days of directed therapy with meropenem, as meningitis could not be excluded...
September 2023: Curēus
https://read.qxmd.com/read/37730164/antimicrobial-treatment-of-urinary-tract-infections-in-children
#9
REVIEW
Fouad Madhi, Alexis Rybak, Romain Basmaci, Anne-Sophie Romain, Andréas Werner, Sandra Biscardi, François Dubos, Albert Faye, Emmanuel Grimprel, Josette Raymond, Barbara Ros, Robert Cohen
Urinary tract infections are the most frequently proven bacterial infections in pediatrics. The treatment options proposed in this guide are based on recommendations published by the Groupe de Pathologie Infectieuse de Pédiatrique (GPIP-SFP). Except in rare situations (newborns, neutropenia, sepsis), a positive urine dipstick for leukocytes and/or nitrites should precede a urine culture examination and any antibiotic therapy. After rising steadily between 2000 and 2012, the proportion of Escherichia coli strains resistant to extended-spectrum ß-lactamases (E-ESBL) has remained stable over the last ten years (between 7% and 10% in pediatrics)...
November 2023: Infectious diseases now
https://read.qxmd.com/read/37672896/neonatal-outcomes-and-related-risk-factors-of-30-cases-with-aplastic-anemia-in-pregnancy-a-retrospective-study
#10
JOURNAL ARTICLE
Jianglin Ma, Fang Luo, Lingling Yan
OBJECTIVE: To analyze the neonatal outcomes of pregnancies complicated by aplastic anemia (AA) and to investigate the underlying risk factors. METHODS: A single-center retrospective study was performed. Thirty singleton gravidas with AA (AA group) and another thirty singleton gravidas (control group) without immune or blood system disorders who gave birth around the same time were selected. Neonatal outcomes were compared between the two groups. Meanwhile, multivariable analyses were utilized to investigate the association between underlying risk factors and adverse neonatal events...
October 2023: Early Human Development
https://read.qxmd.com/read/37517970/risk-factors-for-mortality-in-pseudomonas-aeruginosa-bacteremia-in-children
#11
JOURNAL ARTICLE
Jian Chen, Haixin Huang, Chengjun Liu, Yue-Qiang Fu
BACKGROUND: The incidence of Pseudomonas aeruginosa (P. aeruginosa) bacteremia in children ranks third to fourth among gram-negative bacilli bacteremia, which is one of the main conditional pathogens in hospitals. This study aimed to identify the clinical characteristics and risk factors of 60-day in-hospital mortality in children with P. aeruginosa bacteremia. METHODS: This retrospective study was conducted in a tertiary pediatric hospital between January 2015 and December 2021 including children with P...
July 18, 2023: Pediatrics and Neonatology
https://read.qxmd.com/read/37415020/is-there-room-for-prompt-routine-ophthalmic-examination-in-neonates-with-congenital-cytomegalovirus-cmv-infection-during-the-neonatal-period
#12
JOURNAL ARTICLE
Michael Mimouni, Liron Naftali Ben-Haim, Efrat Naaman, Alex Bebin, Yonina Ron, Eedy Mezer, Ori Hochwald, Liron Borenstein-Levin, Shiri Zayit-Soudry
PURPOSE: To establish the clinical necessity of routine targeted ophthalmic examination of newborns with congenital cytomegalovirus (CMV) infection during the neonatal period. METHODS: This retrospective study included consecutive neonates that were referred for ophthalmological screening within the context of a proven congenital CMV infection. The presence of CMV-related ocular and systemic findings was determined. RESULTS: Among the 91 patients included in this study, 72 (79...
July 7, 2023: International Ophthalmology
https://read.qxmd.com/read/37358118/-neonatal-lupus-erythematosus-a-clinical-case
#13
JOURNAL ARTICLE
Catalina Montané, Lía Hojman, Trinidad Hasbún
UNLABELLED: Neonatal lupus erythematosus (NLE) is a very rare autoimmune disease, occurring in neonates born to mothers who present auto-antibodies to cytoplasmic antigens of Sjögren's syndrome. In most cases, the clinical course is benign toward spontaneous resolution, but there is a group of patients who develop severe involvement of the cardiac conduction system, therefore, early detection is critical. OBJECTIVE: To describe a clinical case of neonatal lupus erythematosus emphasizing the importance of timely diagnosis in the patient and the mother...
April 2023: Andes pediatrica: revista Chilena de pediatría
https://read.qxmd.com/read/37272337/maternal-hypertension-and-early-onset-neonatal-neutropenia
#14
JOURNAL ARTICLE
Peter Joslyn, Evrim Oral, Anne Martin, Jeffrey Surcouf, Brian Barkemeyer
Objective: Maternal hypertension is considered a risk factor for early neonatal neutropenia. We sought to explore this relationship. Study Design: This retrospective cohort study compared initial neutrophil counts in infants born to mothers with preeclampsia with severe features (PSF) and infants born to normotensive mothers using Negative Binomial Regression (NBR) and logistic regression models. Results: Maternal hypertension negatively affected the early neonatal neutrophil count (adjusted NRB coefficient 0...
June 5, 2023: Fetal and Pediatric Pathology
https://read.qxmd.com/read/37054500/sociodemographic-characteristics-of-children-born-to-hiv-infected-mothers-in-western-french-guiana
#15
JOURNAL ARTICLE
M R Aboubacar Ahidan, S Buende, L Osei, N Hcini, N Elenga
BACKGROUND: French Guiana is the French department most affected by HIV. The situation in Western French Guiana is complicated by the transborder context and isolation of many patients. This study aims to describe the epidemiological characteristics of children born to mothers living with HIV followed in Western French Guiana. METHODS: This was a retrospective and descriptive study. All children born to HIV-infected mothers between 2014 and 2018 were included. Data were collected using a survey sheet to generate an Excel database...
March 29, 2023: Journal of Infection and Public Health
https://read.qxmd.com/read/36636589/infantile-onset-pompe-disease-with-neutropenia-treatment-decisions-in-the-face-of-a-unique-phenotype
#16
Mary Riedy, Jeff F Zhang, Taosheng Huang, Anil Kumar Swayampakula
Infantile-onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hypertrophy who was diagnosed with Pompe disease on New York State newborn screen. Diagnosis was confirmed with repeat leukocyte acid alpha-glucosidase (GAA) enzyme activity, GAA gene sequencing, urine Hex4, and evaluation of Cross-Reactive Immunological Material (CRIM) status...
January 2023: JIMD Reports
https://read.qxmd.com/read/36360371/early-onset-neonatal-sepsis-in-turkey-a-single-center-7-year-experience-in-etiology-and-antibiotic-susceptibility
#17
JOURNAL ARTICLE
Sevilay Topcuoglu, Salih Demirhan, Emre Dincer, Elif Ozalkaya, Guner Karatekin
BACKGROUND: The pathogen distribution and antibiotic susceptibility of the pathogens in early-onset sepsis (EOS) differ between countries. The epidemiological data from a limited number of studies about EOS in Turkey are insufficient. In this study, we aimed to evaluate the culture-proven EOS cases, causative microorganisms, antibiotic susceptibility patterns, and risk factors for mortality in EOS. METHODS: This is a retrospective, single-center study over a 7-year period, from 2013 to 2020, at Zeynep Kamil Maternity and Children's Hospital, İstanbul, Turkey...
October 28, 2022: Children
https://read.qxmd.com/read/36278616/alloimmune-neutropenia-in-a-neonate-case-report-and-review-of-literature
#18
Arun Prasath, Alanna Grafius, Mona Bonanno, Steven Ambrusko, Jayasree Nair
Neonatal alloimmune neutropenia, variably referred to in the literature as NAIN, FNAIN or NIN, is a disorder of neutrophil destruction in newborns similar to better-known conditions such as hemolytic disease of the newborn and neonatal alloimmune thrombocytopenia (FNAIT). Infants affected by this self-limiting condition can present asymptomatically or have a wide range of symptoms, from skin manifestations and mucositis to severe infections such as sepsis and pneumonia. In our case, we report an otherwise asymptomatic term infant born with severe neutropenia to a mother affected by COVID-19 in the 3rd trimester...
October 3, 2022: Antibodies
https://read.qxmd.com/read/36243346/the-importance-of-defining-the-age-specific-trec-krec-levels-for-detection-of-various-inborn-errors-of-immunity-in-pediatric-and-adult-patients
#19
JOURNAL ARTICLE
Veronika Medova, Ivana Hulínková, Nikoleta Laiferová, Veronika Urdová, Peter Čižnár, Dana Dolníková, Veronika Krasňanová, Oksana Fabri, Andrej Ficek, Andrea Soltysova
This study aimed to establish physiological TREC/KREC values in a healthy population of different ages to create cut-offs and analyze pediatric patients with various inborn errors of immunity. Dry blot spots and DNA samples purified from whole blood were used for TREC/KREC quantification using real-time PCR. Observed difference (p < .001) between methods revealed the isolation method as a factor we need to consider when determinating cut-offs. Data of 713 healthy individuals showed a negative correlation (p < ...
October 12, 2022: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://read.qxmd.com/read/36036686/-maternal-lupus-diagnosed-through-skin-lesions-of-a-newborn
#20
JOURNAL ARTICLE
Sarah J van der Lely, Arne A Meesters, Nynke H Buter
Directly after birth a newborn was found to have distinctive skin lesions on her face. The lesions were suspicious for neonatal lupus. Her asymptomatic mother tested positive for anti-SSA/Ro and anti-SSB/La antibodies. The newborn had no complications of neonatal lupus (e.g. atrioventricular block, anemia, neutropenia, or liver enzyme elevation) and the lesions faded within two weeks.
August 4, 2022: Nederlands Tijdschrift Voor Geneeskunde
keyword
keyword
88670
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.