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1.
FP Essent ; 488: 11-15, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31894950

RESUMEN

Circumcision is the surgical removal of some or all of the foreskin (ie, prepuce) of the penis. Among high-resource countries, the United States is the only country in which the majority of newborns are circumcised for nonreligious reasons. The rate of circumcision in the United States has been decreasing. Circumcised males have a lower risk of urinary tract infections, penile cancer, and several sexually transmitted infections. The benefit of circumcision is greater for males with certain urologic conditions, such as isolated hydronephrosis, vesicoureteral reflux, and ureteropelvic junction obstruction. Complications develop in approximately 1 of every 200 procedures. The American Academy of Pediatrics and the American Academy of Family Physicians recommend continued access to circumcision on an elective basis and conclude that the benefits outweigh the risks. However, they do not endorse routine neonatal circumcision. Local anesthesia should be used to decrease pain during the procedure. Three devices commonly are used. Each has risks and benefits, and no one device has been proven to be superior to another.


Asunto(s)
Circuncisión Masculina , Neoplasias del Pene , Enfermedades de Transmisión Sexual , Infecciones Urinarias , Niño , Humanos , Lactante , Recién Nacido , Masculino , Neoplasias del Pene/prevención & control , Enfermedades de Transmisión Sexual/prevención & control , Estados Unidos , Obstrucción Ureteral , Infecciones Urinarias/prevención & control
2.
FP Essent ; 488: 16-20, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31894951

RESUMEN

In children, inguinal hernias, hydroceles, and cryptorchidism typically are associated with a patent processus vaginalis. Inguinal hernias occur in 3.5%-5% of full-term newborns and 9%-11% of premature newborns. Inguinal hernias are characterized by an intermittent mass in the groin that may be reducible or incarcerated. Incarcerated hernias usually are painful, can cause vomiting, and require prompt intervention. The definitive treatment is surgery, and urgency depends on symptoms and ability to reduce the hernia. Hydrocele is an accumulation of serous fluid in the tunica vaginalis around the testicle that presents as a painless, fluctuant mass. Most hydroceles resolve spontaneously by age 1 year. Cryptorchidism occurs when one or both testes do not migrate to the scrotum. The diagnosis is made via history and physical examination. Spontaneous descent of the testis may occur before age 6 months but referral to a surgical subspecialist is indicated if descent does not occur.


Asunto(s)
Criptorquidismo , Hernia Inguinal , Hidrocele Testicular , Niño , Humanos , Lactante , Recién Nacido , Masculino
3.
FP Essent ; 488: 21-24, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31894952

RESUMEN

Toilet training is a developmental task that typically can be accomplished without medical intervention. Parent counseling about it can begin approximately at the 18- to 24-month well child visit. Guidelines from the American Academy of Pediatrics recommend beginning toilet training when the child shows signs of readiness, but typically not before age 2 years; praising success using positive terms; avoiding punishment, shaming, or force; and making training positive, nonthreatening, and natural. Nocturnal enuresis is defined as urinary incontinence that occurs at night during sleep in children 5 years or older for 3 consecutive months. It is common, affecting 5%-10% of 7-year-old children in the United States. Nonpharmacologic management includes behavioral interventions (eg, limiting fluid intake before bedtime, waking the child at night to attempt to urinate, lifting the sleeping child onto the toilet and then waking him or her to urinate, bladder training to increase bladder capacity, or instituting a reward system). Bed alarms are the first-line intervention but typically are not reimbursed by health insurance. Pharmacotherapy includes desmopressin, tricyclic antidepressants, and anticholinergics. The combination of a bed alarm with pharmacotherapy can be considered as initial management or after an unsuccessful initial intervention.


Asunto(s)
Enuresis Nocturna , Control de Esfínteres , Antidepresivos Tricíclicos , Terapia Conductista , Niño , Preescolar , Desamino Arginina Vasopresina , Femenino , Humanos , Lactante , Masculino , Enuresis Nocturna/terapia
4.
FP Essent ; 488: 25-34, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31894953

RESUMEN

Acute urinary tract infection (UTI) is among the most common bacterial infections in infants and children. Diagnosis requires evidence of infection and the presence of at least 50,000 colony-forming units (CFU)/mL of a pathogen cultured from an appropriately collected urine specimen. Febrile UTIs (ie, temperature 38°C [100.4°F] or greater) are most common during the first two years of life. Risk factors for UTI in febrile female infants are white race, age younger than 12 months, temperature 39°C (102.2°F) or greater, fever lasting 2 days or more, and absence of another source of infection. For febrile male infants, risk factors include being uncircumcised. If circumcised, risk factors include nonblack race, temperature 39°C (102.2°F) or greater, fever for more than 24 hours, and absence of another source of infection. Antibiotic treatment should be continued for 7 to 14 days. Renal and bladder ultrasonography is indicated for infants ages 2 to 24 months with a febrile UTI. If ultrasonography results are abnormal, a voiding cystourethrogram (VCUG) is indicated. VCUG also is indicated for children with recurrence of febrile UTI to identify vesicoureteral reflux and/or other anatomic findings associated with recurrent UTI. Recent studies have shown a statistically significant benefit of continuous antibiotic prophylaxis for prevention of recurrent UTI.


Asunto(s)
Infecciones Urinarias , Reflujo Vesicoureteral , Profilaxis Antibiótica , Niño , Preescolar , Femenino , Fiebre , Humanos , Lactante , Masculino , Factores de Riesgo
5.
Adv Exp Med Biol ; 1232: 25-31, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31893390

RESUMEN

Hypoxic ischemic encephalopathy (HIE) leads to significant mortality and morbidity, and therapeutic hypothermia (TH) has become a standard of care following HIE. After TH, the body temperature is brought back to 37 °C. Early electroencephalography (EEG) is a reliable outcome biomarker following HIE. We hypothesized that changes in cerebral oxidative metabolism, measured as Δ[oxCCO], in relation to changes in brain tissue oxygenation (measured as Δ[HbD]) during rewarming will correlate with injury severity as evidenced on amplitude integrated EEG/EEG at initial presentation. Broadband near-infrared spectroscopy (NIRS) and systemic data were collected during rewarming from 14 infants following HIE over a mean period of 12.5 h. All infants were monitored with video EEG telemetry using a standard neonatal montage. aEEG and EEG background was classified into mild, moderate and severely abnormal groups based on the background pattern. Two infants had mild, 6 infants had moderate and another 6 infants had severe abnormality at presentation. The relationship between [oxCCO] and [HbD] was evaluated between two groups of infants with abnormal electrical activity (mild vs moderate to severe). A significant difference was noted between the groups in the relationship between [oxCCO] and [HbD] (as r2) (p = 0.02). This result indicates that the mitochondrial injury and deranged oxidative metabolism persists in the moderate to severely abnormal group during rewarming.


Asunto(s)
Electroencefalografía , Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Biomarcadores/análisis , Encéfalo/metabolismo , Humanos , Hipoxia-Isquemia Encefálica/diagnóstico , Lactante , Recién Nacido , Recalentamiento
6.
Isr Med Assoc J ; 22(1): 43-47, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31927805

RESUMEN

BACKGROUND: Temporary abdominal closure (TAC) surgical technique relates to a procedure in which the post-surgical abdominal wall remains open in certain indications. The Bogota bag (BB) technique is a tension-free TAC method that covers the abdominal contents with a sterilized fluid bag. There are very few reports of pediatric patients treated with this technique. OBJECTIVES: To describe our institution's 15 years of experience using the BB technique on pediatric patients. METHODS: A retrospective cohort study describing our experience treating patients with BB was conducted. The medical files of 17 pediatric patients aged 0-18 years were reviewed. RESULTS: Between January 2000 and December 2014, 17 patients were treated with BB at our medical center (6 females, median age 12 years). Indications for BB were a need for a surgical site re-exploration, mechanical inability for primary abdominal closure, and high risk for ACS development. Median BB duration was 5 days and median bag replacement was 2 days. Median ICU length of stay (LOS) was 10 days and hospital LOS was 27 days. The ICU admission and BB procedure was tolerated well by 6 patients who were discharged home without complications. Of the remaining 11 patients, 6 patients died during the admission (35%) and the others presented with major complications not related to the BB but to the patient's primary disease. CONCLUSIONS: This report represents the largest series of children treated with BB. The technique is simple to perform, inexpensive, and has very few complications.


Asunto(s)
Técnicas de Cierre de Herida Abdominal , Abdomen/cirugía , Pared Abdominal/cirugía , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos
7.
Monogr Oral Sci ; 28: 48-58, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31940626

RESUMEN

Ultratrace element is a relatively new term, and is defined as those elements with an established, estimated, or suspected dietary requirement of minute amount, generally of the order of µg/day. This chapter focuses on fluorine (F), aluminium (Al), molybdenum (Mo), and cobalt (Co). Whilst diet is the principal source of Al, Mo, and Co found in the body, inadvertent ingestion of dental hygiene products accounts for a significant proportion of F intake. Apart from F, the influence of other ultratrace elements on oral health, and in particular dental caries, has not been fully established. The calcified tissues contain 99% of body F. During tooth development, ingested (systemic) F is incorporated into the apatite crystals of the developing tooth which helps in improving resistance to acid demineralisation. However, the presence of low but constant levels of topical F in the fluid phase at the tooth enamel surface are more important in controlling tooth decay in people of all ages. An adequate intake, from all dietary and non-dietary sources, is estimated as 0.05 mg/kg body weight/day for children older than 6 months and adults, based on estimated intakes that have been shown to reduce the incidence of dental caries while minimising adverse health effects such as dental fluorosis. An inverse relationship between incidence of dental caries and levels of Al in drinking water, food, and soils has been indicated by some epidemiological studies. Co and Mo, whilst occasionally showing potential beneficial oral health effects in laboratory experiments, do so at concentrations much higher than found in vivo.


Asunto(s)
Caries Dental , Molibdeno , Adulto , Aluminio , Niño , Cobalto , Fluoruros , Humanos , Lactante
8.
MMWR Morb Mortal Wkly Rep ; 69(2): 40-43, 2020 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-31945035

RESUMEN

Multiple genetically distinct influenza B/Victoria lineage viruses have cocirculated in the United States recently, circulating sporadically during the 2018-19 season and more frequently early during the 2019-20 season (1). The beginning of the 2019-20 influenza season in Louisiana was unusually early and intense, with infections primarily caused by influenza B/Victoria lineage viruses. One large pediatric health care facility in New Orleans (facility A) reported 1,268 laboratory-confirmed influenza B virus infections, including 23 hospitalizations from July 31 to November 21, 2019, a time when influenza activity is typically low. During this period, Louisiana also reported one pediatric death associated with influenza B virus infection. An investigation of the influenza B virus infections in Louisiana, including medical and vaccine record abstraction on 198 patients, primarily from facility A, with sporadic cases from other facilities in the state, found that none of the patients had received 2019-20 seasonal influenza vaccine, in part because influenza activity began before influenza vaccination typically occurs. Among 83 influenza B viruses sequenced from 198 patients in Louisiana, 81 (98%) belonged to the recently emerged B/Victoria V1A.3 genetic subclade. Nationally, to date, B/Victoria viruses are the most commonly reported influenza viruses among persons aged <25 years (2). Of the 198 patients in the investigation, 95% were aged <18 years. Although most illnesses were uncomplicated, the number of hospitalizations, clinical complications, and the reported pediatric death in Louisiana serve as a reminder that, even though influenza B viruses are less common than influenza A viruses in most seasons, influenza B virus infection can be severe in children. All persons aged ≥6 months should receive an annual influenza vaccination if they have not already received it (3). Antiviral treatment of influenza is recommended as soon as possible for all hospitalized patients and for outpatients at high risk for influenza complications (including children aged <2 years and persons with underlying medical conditions) (4).


Asunto(s)
Virus de la Influenza B/aislamiento & purificación , Gripe Humana/epidemiología , Gripe Humana/virología , Adolescente , Adulto , Niño , Preescolar , Humanos , Lactante , Vacunas contra la Influenza/administración & dosificación , Gripe Humana/prevención & control , Louisiana/epidemiología , Estaciones del Año , Adulto Joven
9.
MMWR Morb Mortal Wkly Rep ; 69(2): 25-29, 2020 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-31945037

RESUMEN

Birth defects are a leading cause of infant mortality in the United States, accounting for 20.6% of infant deaths in 2017 (1). Rates of infant mortality attributable to birth defects (IMBD) have generally declined since the 1970s (1-3). U.S. linked birth/infant death data from 2003-2017 were used to assess trends in IMBD. Overall, rates declined 10% during 2003-2017, but decreases varied by maternal and infant characteristics. During 2003-2017, IMBD rates decreased 4% for infants of Hispanic mothers, 11% for infants of non-Hispanic black (black) mothers, and 12% for infants of non-Hispanic white (white) mothers. In 2017, these rates were highest among infants of black mothers (13.3 per 10,000 live births) and were lowest among infants of white mothers (9.9). During 2003-2017, IMBD rates for infants who were born extremely preterm (20-27 completed gestational weeks), full term (39-40 weeks), and late term/postterm (41-44 weeks) declined 20%-29%; rates for moderate (32-33 weeks) and late preterm (34-36 weeks) infants increased 17%. Continued tracking of IMBD rates can help identify areas where efforts to reduce IMBD are needed, such as among infants born to black and Hispanic mothers and those born moderate and late preterm (32-36 weeks).


Asunto(s)
Anomalías Congénitas/mortalidad , Mortalidad Infantil/tendencias , Afroamericanos/estadística & datos numéricos , Anomalías Congénitas/etnología , Grupo de Ascendencia Continental Europea/estadística & datos numéricos , Femenino , Disparidades en el Estado de Salud , Hispanoamericanos/estadística & datos numéricos , Humanos , Lactante , Mortalidad Infantil/etnología , Recien Nacido Extremadamente Prematuro , Recién Nacido , Posmaduro , Recien Nacido Prematuro , Masculino , Estados Unidos/epidemiología
10.
Medicine (Baltimore) ; 99(1): e18655, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31895830

RESUMEN

RATIONALE: Developmental dysplasia of the hip (DDH) has an incidence of 5 per 1000 newborns and its management depends on various factors. We present a rare case of DDH with soft tissue obliteration and a bony prominence in the center of the acetabulum after failed open reduction and acetabuloplasty. PATIENT CONCERNS: A 20-month-old girl presented to our clinic with right hip stiffness after undergoing open reduction and acetabuloplasty at another hospital. DIAGNOSES: The diagnosis of DDH was made using a computed tomography scan that revealed a right hip dislocation with soft tissue obliteration and a bony prominence in the center of the acetabulum. INTERVENTIONS: We used a novel technique for treating the rare presentation of complicated DDH with massive soft tissue obliteration and bony prominence in the center of the acetabulum after failed open reduction and acetabuloplasty. The right hip was surgically explored. The acetabulum was deepened and resurfaced. Bone cement was applied over the acetabulum to prevent future ankylosis. OUTCOMES: At the follow-up 7 years after the last surgery, the patient had regained full range of motion and a properly reduced right hip with optimal acetabular coverage on radiographs. LESSONS: Care must be taken in any patient with DDH who presents with hip redislocation after open reduction. If deepening and resurfacing of the acetabulum are required, bone cement could be used as a temporary spacer for 8 weeks; this was key in treating our patient.


Asunto(s)
Acetábulo/lesiones , Luxación Congénita de la Cadera/cirugía , Acetábulo/diagnóstico por imagen , Cementos para Huesos , Femenino , Luxación Congénita de la Cadera/diagnóstico por imagen , Humanos , Lactante , Recurrencia , Tomografía Computarizada por Rayos X
11.
N C Med J ; 81(1): 5-13, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31908325

RESUMEN

BACKGROUND In 2016, the North Carolina Division of Public Health (DPH) launched the Improving Community Outcomes for Maternal and Child Health (ICO4MCH) program to provide 5 local health departments (LHDs) with financial resources and technical assistance to address 3 aims: improve birth outcomes, reduce infant mortality, and improve health for children from birth to 5 years.METHOD: State legislation established an academic-practice partnership between NCDPH and the University of North Carolina at Chapel Hill (UNC) to provide program evaluation and implementation coaching to LHDs. ICO4MCH used a collective impact framework, principles of implementation science, and a health equity approach to implement evidence-based strategies to address the program's aims.RESULTS: A shared measurement system was developed by an evaluation stakeholders group led by the NCDPH and UNC in which LHDs reported data on a quarterly basis and the evaluators returned reports to drive improvements. Structured assessments and technical assistance provided by implementation coaches helped grantees address barriers to implementation including cultivating and sustaining a diverse community action team, addressing staff turnover, and using data to drive improvements.LIMITATIONS: It was challenging for grantees to balance community needs and build partnerships in the first year while integrating data from multiple assessments into action plans to meet the performance measures. It was necessary to streamline assessments and reduce indicators to make data more actionable.CONCLUSION: An academic-practice partnership was integral to successful implementation of the ICO4MCH program and may serve as a model for moving evidence-based maternal child health programs to practice in LHDs.


Asunto(s)
Salud del Niño , Promoción de la Salud/organización & administración , Relaciones Interinstitucionales , Salud Materna , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , North Carolina , Embarazo , Evaluación de Programas y Proyectos de Salud
12.
N C Med J ; 81(1): 24-27, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31908328

RESUMEN

In working to improve the health of North Carolinians, a critical focus starts with our mothers and infants and their surrounding communities. North Carolina's perinatal outcomes, as evidenced by maternal morbidity and mortality, infant mortality, preterm births, and the larger context of lifelong physical and mental health of our citizens, offer areas for improvement and policy implications. In addition, the unacceptable disparities that remain despite some overall improvement in outcomes warrant full attention. This issue of the NCMJ highlights the state of perinatal health in North Carolina; the importance of a risk-appropriate perinatal system of care; the opportunities for supporting our parents, children, and families; and how we as a state and as a community can come together to improve the safety and experience of giving birth in North Carolina and beyond.


Asunto(s)
Salud del Lactante/estadística & datos numéricos , Salud Materna/estadística & datos numéricos , Femenino , Humanos , Lactante , Mortalidad Infantil/tendencias , Recién Nacido , Mortalidad Materna/tendencias , North Carolina/epidemiología , Embarazo , Nacimiento Prematuro/epidemiología
13.
N C Med J ; 81(1): 28-31, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31908329

RESUMEN

This commentary evaluates access and barriers to perinatal care in North Carolina utilizing key goals the state has identified in its strategic plans, such as expanding health care access for North Carolinians, increasing access to preconception care for women and men, improving access to prenatal care, and undoing racism.


Asunto(s)
Accesibilidad a los Servicios de Salud , Mortalidad Infantil/tendencias , Atención Perinatal , Calidad de la Atención de Salud , Femenino , Humanos , Lactante , Recién Nacido , Masculino , North Carolina/epidemiología , Embarazo
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 12-16, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922587

RESUMEN

OBJECTIVE: To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD). METHODS: The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient's condition. RESULTS: The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c.960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, ß-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c.467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software. CONCLUSION: The patient's condition may be attributed to the compound heterozygous c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.


Asunto(s)
Cerebrósido Sulfatasa , Leucodistrofia Metacromática , Cerebrósido Sulfatasa/genética , Exones/genética , Femenino , Humanos , Lactante , Leucodistrofia Metacromática/genética , Masculino , Mutación/genética , Embarazo , Empalme del ARN/genética
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 28-32, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922591

RESUMEN

OBJECTIVE: To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria. METHODS: Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests. RESULTS: The infant's phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant. CONCLUSION: The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.


Asunto(s)
Síndrome Oculocerebrorrenal , Monoéster Fosfórico Hidrolasas , Exones/genética , Pruebas Genéticas , Humanos , Lactante , Síndrome Oculocerebrorrenal/genética , Fenotipo , Monoéster Fosfórico Hidrolasas/genética
17.
Medicine (Baltimore) ; 99(1): e18503, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31895784

RESUMEN

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease. In clinical practice, we have observed that some HLH patients who have features of systemic autoinflammatory diseases (SAIDs) exhibit unique clinical manifestations and outcomes different from other HLH patients.We analyzed data from 25 HLH patients who were considered to have SAIDs; data were collected from patients of our center between January 1, 2015 and September 1, 2018.The median age of the patients was 1.75 years. In the early phase, all patients had a fever and 92% of patients had a rash; 96% of patients had high white blood cell count (WBC), C-reaction protein, and erythrocyte sedimentation rate. With progression, the above laboratory results decreased gradually. During the HLH period, we compared SAIDs-related HLH and Epstein-Barr virus (EBV)-related HLH and found that rash was more common (92%, P < .001) and splenomegaly was less common (64%, P = .023) in SAIDs-related HLH. Further, WBC, ferritin, and Interleukin-6 levels in SAIDs-related HLH patients were higher than those in EBV-related HLH patients. In contrast, hemoglobin, triglyceride, sCD25, Interleukin-10, and interferon-γ levels in SAIDs-related HLH patients were lower compared with those in EBV-related HLH patients. SAIDs-related HLH patients received a modified HLH-2004 protocol at our center. Most patients had a good prognosis.We provide a summary of the unique clinical and laboratory features, treatment protocols, and outcomes of SAIDs patients with HLH at onset. The findings indicate that these patients had a better response to corticosteroids and cyclosporin compared with EBV-related HLH patients.


Asunto(s)
Enfermedades Autoinmunes/patología , Infecciones por Virus de Epstein-Barr/patología , Exantema/etiología , Herpesvirus Humano 4 , Linfohistiocitosis Hemofagocítica/patología , Corticoesteroides/uso terapéutico , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/virología , Sedimentación Sanguínea , Proteína C-Reactiva , Ciclosporina/uso terapéutico , Infecciones por Virus de Epstein-Barr/inmunología , Infecciones por Virus de Epstein-Barr/virología , Exantema/patología , Exantema/virología , Femenino , Humanos , Lactante , Recuento de Leucocitos , Linfohistiocitosis Hemofagocítica/inmunología , Linfohistiocitosis Hemofagocítica/virología , Masculino , Esplenomegalia/inmunología , Esplenomegalia/virología , Resultado del Tratamiento
18.
Zhonghua Er Ke Za Zhi ; 58(1): 19-24, 2020 Jan 02.
Artículo en Chino | MEDLINE | ID: mdl-31905471

RESUMEN

Objective: To summarize the diagnosis, clinical manifestations, treatment and prognosis of congenital cystic lung lesions. Methods: A retrospective study described the clinical course of 96 patients (46 female and 50 male) diagnosed with congenital cystic lung lesions treated at the Tianjin Children's Hospital from January 2010 to March 2019. The clinical findings, imaging examinations, pathological findings, treatment and follow-up were analyzed. Results: Totally 96 patients (aged from 4 days to 13 years) with congenital cystic lung lesions were included in this study. Eighty-six patients (90%) were diagnosed when they had cough and fever symptoms. Forty (42%) patients exhibited congenital cystic adenomatoid malformation, 30 underwent surgical excision, two were at emergency operations and one dead. There were 12 (13%) patients with pulmonary sequestration and four were surgical treated. Twelve (13%) patients with bronchogenic cyst were included and 4 were surgically treated. There were 3 (3%) patients with congenital lobar emphysema and one was surgically treated. Another patient with pneumothorax was operated in other hospital 2 months after discharge. Twenty-nine (30%) patients with unclassified congenital cystic lung lesions could not be definitively diagnosed by CT. Some of them were difficult to be distinguished from necrotizing pneumonia. Finally, 2 patients were diagnosed as necrotizing pneumonia after 6, 10 months follow-up. After operation 37 out of 39 patients recovered well. Conclusions: The diagnosis of congenital pulmonary cystic disease depend on imaging and pathological examination. Most patients are diagnosed when they have respiratory tract infection. The main clinical manifestations are cough and fever. The prognosis of operative management is good.


Asunto(s)
Quiste Broncogénico/diagnóstico , Quiste Broncogénico/cirugía , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Enfisema Pulmonar/patología , Adolescente , Quiste Broncogénico/congénito , Secuestro Broncopulmonar/diagnóstico , Secuestro Broncopulmonar/cirugía , Niño , Preescolar , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Femenino , Humanos , Lactante , Masculino , Neumonectomía , Enfisema Pulmonar/cirugía , Estudios Retrospectivos , Resultado del Tratamiento
19.
Zhonghua Er Ke Za Zhi ; 58(1): 35-40, 2020 Jan 02.
Artículo en Chino | MEDLINE | ID: mdl-31905474

RESUMEN

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions: KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.


Asunto(s)
Encefalopatías/genética , Epilepsia/diagnóstico , Canal de Potasio Kv.1.2/genética , Convulsiones , Edad de Inicio , Encéfalo/fisiopatología , Encefalopatías/fisiopatología , Niño , Preescolar , Discapacidades del Desarrollo/fisiopatología , Epilepsia/complicaciones , Epilepsia/genética , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Estudios Retrospectivos
20.
Zhonghua Er Ke Za Zhi ; 58(1): 46-50, 2020 Jan 02.
Artículo en Chino | MEDLINE | ID: mdl-31905476

RESUMEN

Objective: To investigate the safety, feasibility and operation key points of whole lung lavage in infants with pulmonary alveolar proteinosis. Methods: The clinical manifestations, genetic screening, therapeutic interventions and outcome of an infant with pulmonary alveolar proteinosis complicated with respiratory failure who received whole lung lavage in November 2018 in Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine were reported. Websites including PubMed, Springer Link, China National Knowledge Infrastructure (CNKI), Weipu Database, and Wanfang Database were searched using the key words of "whole lung lavage" "pediatric" and "pulmonary alveolar proteinosis" for articles published from their establishments to April 2019. Relevant literature was reviewed. Results: A 3-month-old boy had experienced cough, shortness of breath and cyanosis for 1 week prior to admission to pediatric intensive care unit. Physical examination showed hepatosplenomegaly. Complete blood cell count showed mild anemia (hemoglobin 96 g/L) and normal white blood cells. The patient had normal C-reactive protein and normal blood platelet. Biochemical panel showed hypoalbuminemia (31 g/L), mildly elevated glutamic oxaloacetic transaminase (115 U/L) and blood ammonia (165 µmol/L), extremely elevated lactate dehydrogenase (>6 600 U/L) and hyperferritinemia (>4 500 µg/L). Chest computed tomography (CT) revealed decreased transmittance of both lungs, patchy high density shadow and ground glass opacity. Genetic testing revealed a mutation of c.625+1G>A in SLC7A7. Schiff reaction (PAS staining) in bronchoalveolar lavage fluid was positive. The patient was diagnosed with severe pneumonia, respiratory failure, lysinuria urinary protein intolerance, and pulmonary alveolar proteinosis. The patient received sequential unilateral whole lung lavage in 2 days and was successfully weaned from ventilator. He was discharged home breathing room air. Eleven articles (11 in English and non in Chinese) were reviewed. Twenty-one patients were included. After whole lung lavage, 76% (16/21) of the patients had improvement in respiratory function. Conclusions: Whole lung lavage can effectively improve respiratory failure caused by pulmonary alveolar proteinosis in infant patients. The procedure is feasible and safe.


Asunto(s)
Lavado Broncoalveolar/métodos , Pulmón/patología , Proteinosis Alveolar Pulmonar/terapia , Sistema de Transporte de Aminoácidos y+L , Niño , China , Tos/etiología , Cadenas Ligeras de la Proteína-1 Reguladora de Fusión , Humanos , Lactante , Masculino , Proteinosis Alveolar Pulmonar/diagnóstico , Resultado del Tratamiento
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