Neutropenia newborn

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 < ...

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.

BACKGROUND: Acute funisitis-the histologic diagnosis of inflammation within the umbilical cord-represents a fetal inflammatory response to infection. Although acute funisitis has been associated with an increased risk of adverse outcomes among preterm neonates, there are limited and conflicting data with term deliveries. OBJECTIVE: This study aimed to evaluate the association between acute funisitis and neonatal morbidity in neonates born at term to pregnant patients with a clinical diagnosis of intraamniotic infection...

We report treating a term neonate with tuberous sclerosis and giant rhabdomyomas who presented with incessant supraventricular tachycardia with Everolimus. The treatment was efficient in reducing tumor size and assisted as an adjunct therapy in controlling arrhythmia and limiting preexcitation. Treatment was challenged by difficulty to achieve stable drug level and limited by neutropenia as a serious side effect.

With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child was flagged by NBS at 4 days old, but confirmatory testing was delayed due to COVID19 pandemic and parental skepticism. His parents did not adhere to the leucine-restricted diet as recommended. On day 7, the patient presented to the ER with ammonia of 588 μg/dL...

PURPOSE: Children with extensive lymphatic malformations of the head and neck often suffer from functional impairment and aesthetic deformity which significantly affect the quality of life and may be life-threatening. Treatment with sirolimus has the potential to improve symptoms and downsize lymphatic malformations. This systematic review summarizes the current information about sirolimus treatment of lymphatic malformations of the head and neck in children, its efficacy and side effects...

Although galactosemia can be detected through neonatal screening, some cases are characterized by rapid and severe presentation before screening results become available. We report the case of a neonate with classic galactosemia presenting with acute liver failure and cytopenias (thrombocytopenia, anemia, and neutropenia). Neonatal screening results showed increased galactose and phenylalanine levels. The diagnosis of galactosemia was confirmed by the measurement of galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes...

Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation...

BACKGROUND: An early form of preeclampsia is rare. Abnormal placentation, placental perfusion disorders, and inflammatory cytokine release will have an effect on the fetus and newborn. MATERIAL AND METHODS: The study group consisted of preterm newborns whose mothers had a history of preeclampsia and a gestational age of between 30 weeks and 34 weeks + 6 days. The control group consists of neonates matched for gestational age with the case group, whose mothers had normal blood pressure...

BACKGROUND: Perinatal transmission of HIV has dramatically decreased in high-income countries in the last few years with current rates below 1%, but it still occurs in high-risk situations, mainly pregnant women with late diagnosis of infection, poor antiretroviral adherence and a high viral load (VL). In these high-risk situations, many providers recommend combined neonatal prophylaxis (CNP). Our aim was to evaluate the safety and toxicity of CNP in infants deemed at high-risk of HIV infection among mother-infant pairs in the Madrid Cohort...

Background and Objective: Intrauterine growth restriction (IUGR) poses additional challenges in extremely low gestational age newborns (ELGANs). We assessed disturbed hematopoiesis and morbidities associated with this disorder. Methods: This single-center retrospective case-control study compared perinatal hematological profiles, major morbidities, and mortality of 49 infants (gestational age <28 weeks, birth weight ≤ 3rd percentile, and compromised placental function) and 98 infants (birth weight >10th percentile) matched for gestational age, year, and sex...

Severe combined immunodeficiency (SCID) consists of a group of disorders defined by abnormal B and T cell development that typically results in death within the first year of life if undiagnosed or untreated. Reticular dysgenesis (RD) is a rare but especially severe form of SCID that is caused by adenylate kinase 2 deficiency and is characterized not only by lymphopenia but also by profound neutropenia. RD predisposes patients to viral and fungal infections typical of SCID as well as serious bacterial infections atypical in the neonatal period in other SCID types...

BACKGROUND: Multisystem inflammatory syndrome in Children (MIS-C) is a postinfectious immune mediated hyperinflammatory state seen in children and adolescent below 21 year of age and develop after 4-6 weeks of severe acute respiratory syndrome coronavirus -2 (SARS-CoV-2) infection, however, it is rare in neonates. We report an extremely rare and first of its kind case of MIS-C in a neonate with persistent neutropenia. CASE DESCRIPTION: A 19-day old boy presented with complaints of fever and loose stools for 1 day and developed rash after admission...

INTRODUCTION: Inherited phagocyte defects are one of the subgroups of primary immunodeficiency diseases (PIDs) with various clinical manifestations. As oral manifestations are common at the early ages, oral practitioners can have a special role in the early diagnosis. MATERIALS AND METHODS: A comprehensive search was conducted in this systematic review study and data of included studies were categorized into four subgroups of phagocyte defects, including congenital neutropenia, defects of motility, defects of respiratory burst, and other non-lymphoid defects...

Human cytomegalovirus (HCMV) is a ubiquitous pathogen that establishes a life-long infection affecting up to 80% of the US population. HCMV periodically reactivates leading to enhanced morbidity and mortality in immunosuppressed patients causing a range of complications including organ transplant failure and cognitive disorders in neonates. Therapeutic options for HCMV are limited to a handful of antivirals that target late stages of the virus life cycle and efficacy is often challenged by the emergence of mutations that confer resistance...

INTRODUCTION: Intra-arterial chemotherapy (IAC) has been used successfully for unilateral and bilateral eye disease with advanced or less advanced intraocular disease and of children as young as 3 months of age. In this study, we expanded the use of IAC to eyes of two infants with very low birthweight (birth weight of 1000-1500 g) and retinoblastoma. PATIENT CONCERNS: The ophthalmologists refused to give patients intravenous chemotherapy (IVC), considering the risk of IVC because of the low body weight...

BACKGROUND: To this end, the influence of COVID-19 on pregnant women and their neonates is not completely clear. Therefore, the main aim of this study is to investigate maternal and neonatal clinical outcomes with confirmed COVID-19 infection. Besides, it investigates the likelihood of vertical transmission of COVID-19 infection from pregnant women to their neonates. METHODS: A retrospective descriptive study was conducted in three medical centers during the period from March to November 2020...

A 9-month-old boy presented to a community pediatrician with a recent history of failure to thrive. Workup revealed neutropenia and lymphopenia. Subsequent admission for fever and pneumonia revealed an absolute neutrophil count of 860 and absolute lymphocyte count of 214. Lymphopenia affected all lymphocyte subsets and his naïve and memory CD4+ T-cell ratio was inverted for age. Immunoglobulin levels were normal for age, and tetanus and diphtheria antibody titers were protective. The profound lymphopenia raised suspicion for severe combined immunodeficiency (SCID), despite a normal newborn screening by T-cell receptor excision circle analysis...

OBJECTIVE: To study the risk factors and treatment for neutropenia of late newborns (NLN). METHODS: Related clinical data were collected from the preterm infants and critically ill neonates who were admitted to the neonatal intensive care unit from July 2019 to January 2020. A total of 46 newborns with a blood absolute neutrophil count (ANC) of < 1.5×109 /L for two consecutive times at weeks 2-4 after birth were enrolled as the NLN group. A total of 92 late newborns with a blood ANC of ≥ 1...

Neonatal alloimmune neutropenia (NAIN) is caused by maternal alloimmunisation to fetal human neutrophil antigens (HNAs). This study investigated maternal HNA/HLA alloantibodies involved with NAIN and identified the frequency of NAIN in Brazilian neonates. Neonatal neutropenia (neutrophil count < 1.5 × 109 /L) was investigated in samples from 10,000 unselected neonates, resulting in 88 neutropenic newborns (NBs) and their 83 mothers. Genotyping was performed by PCR-SSP (HNA-1/-4) and PCR-RFLP (HNA-3/-5)...