Catarata congênita nas infecções intrauterinas mais comuns (STORCH): revisão de literatura / Congenital cataract in the most common intrauterine infections (STORCH): a review of the literature

RESUMO Objetivo: O objetivo deste estudo foi revisar os aspectos clínicos e patológicos da catarata congênita secundária às infecções por sífilis, toxoplasmose, rubéola, citomegalovírus e herpes simples. Métodos: Trata-se de uma revisão de literatura, na qual foram incluídos artigos de periódicos indexados às bases de dados PubMed®, Cochrane, Lilacs, Embase e SciELO de 2010 a 2023. Resultados: Foram encontrados 45 artigos, e, após seleção, restaram 9 artigos. Além disso, foram adicionados artigos para enriquecer a discussão. A infecção por sífilis está relacionada a alterações corneanas. O citomegalovírus e a toxoplasmose estão relacionados com a coriorretinite e/ou microftalmia. A rubéola é responsável por causar catarata, glaucoma, microftalmia e retinite em sal e pimenta. Conclusão: Foram abordadas as principais etiologias infecciosas e seu quadro clínico na CC. O melhor tratamento para CC é cirúrgico associado a acompanhamento clínico, mas a prevenção é a maneira mais eficaz de combater a CC de etiologia infecciosa. O diagnóstico precoce e o tratamento efetivo previnem alterações e sequelas visuais irreversíveis. Nesse contexto, mostram-se importantes as ações de políticas públicas para o melhor desfecho clínico e melhor qualidade de vida.

ABSTRACT Objective: To review the clinical and pathological aspects of CC secondary to infections by syphilis, toxoplasmosis, rubella, cytomegalovirus, herpes simplex. Methods: This is a literature review. Articles from journals indexed to PubMed, COCHRANE, LILACS, EMBASE and SCIELO from 2010 to 2023 were included. Results: A total of 45 articles were found, which, after selection, remained in 9 articles. Some articles were included to enrich the discussion in this topic. The infection caused by syphilis is related to corneal changes. Cytomegalovirus and Toxoplasmosis due to chorioretinitis and/or microphthalmia. Rubella is responsible for causing cataracts, glaucoma, microphthalmia, and salt and pepper retinitis. Conclusion: The main infectious etiologies and their clinical status in CC were addressed. The best treatment for CC is surgery associated with clinical follow-up, but prevention is the most effective way to combat CC of infectious etiology. Early diagnosis and effective treatment prevent irreversible visual changes and sequelae. In this context, public policy actions are important for the best clinical outcome and better quality of life.

Infección congénita por citomegalovirus en neonatos muy bajo peso

Introducción: La infección congénita por el citomegalovirus en neonatos menores de 1500 gramos puede ser causa de morbilidad, mortalidad y discapacidad. Objetivo: Describir el comportamiento de la infección congénita por citomegalovirus en un servicio de neonatología. Métodos: Se realizó un estudio descriptivo y transversal con 61 neonatos. Se les realizó detección de citomegalovirus en la primera semana de vida en suero y orina, mediante reacción en cadena de la polimerasa, para determinar infección congénita. Se evaluaron variables perinatales en todos los neonatos, así como elementos clínicos y resultados de exámenes complementarios en los infectados. Resultados: La incidencia de infección congénita fue de un 10 % (6/61). El 5 % de los estudios fueron positivos (6/122). Ninguna muestra de orina resultó positiva (0/61) y en el 10 % de las muestras de suero (6/61) se detectó el genoma del virus. Se encontró asociación entre valoración nutricional al nacer e infección por citomegalovirus (p< 0,05). El 83 % de los neonatos infectados presentaron algún signo clínico y el síndrome de dificultad respiratoria fue el más frecuente (67 %). En todos los neonatos con infección congénita el ultrasonido cerebral fue normal y en el 33 % se detectó retinopatía de la prematuridad en el fondo de ojo. Conclusiones: La incidencia de infección congénita por citomegalovirus es alta en este grupo de riesgo. Los signos clínicos encontrados y los resultados del fondo de ojo en neonatos con infección congénita se relacionaron con la prematuridad y la valoración nutricional de hipotrófico se asoció con esta infección.

Introduction: Congenital cytomegalovirus infection in neonates weighing less than 1500 grams can be a cause of morbidity, mortality, and disability. Objective: To describe the behavior of congenital cytomegalovirus infection in a neonatal service. Methods: A descriptive and cross-sectional study was conducted with 61 neonates. Cytomegalovirus was detected in the first week of life in serum and urine, by polymerase chain reaction, to determine congenital infection. Perinatal variables were evaluated in all neonates, as well as clinical elements and results of complementary examinations in infected infants. Results: The incidence of congenital infection was 10% (6/61). 5% of the studies were positive (6/122). No urine samples were positive (0/61) and the virus genome was detected in 10% of serum samples (6/61). An association was found between nutritional assessment at birth and cytomegalovirus infection (p < 0.05). A total of 83% of infected neonates had some clinical sign, with respiratory distress syndrome being the most common (67%). In all neonates with congenital infection, brain ultrasound was normal, and retinopathy of prematurity was detected in 33% of patients with fundus retinopathy. Conclusions: The incidence of congenital cytomegalovirus infection is high in this risk group. The clinical signs found and the results of the fundus in neonates with congenital infection were related to prematurity and the nutritional assessment of hypotrophic was associated with this infection.

Research progress in risk factors of post-transplantation diabetes mellitus / 器官移植

Solid organ transplantation has significantly prolonged the survival of patients with end-stage diseases. However, long-term use of immunosuppressants will increase the risk of post-transplantation diabetes mellitus (PTDM) in the recipients, thereby elevating the risk of infection, cardiovascular disease and death. In recent years, with persistent improvement of diagnostic criteria of PTDM, clinicians have deepened the understanding of this disease. Compared with type 2 diabetes mellitus, PTDM significantly differs in pathophysiological characteristics and clinical progression. Hence, different treatment strategies should be adopted. Early identification of risk factors of organ transplant recipients, early diagnosis and intervention are of significance for improving the quality of life of recipients, prolonging the survival of grafts and reducing the fatality of recipients. Therefore, the diagnosis, incidence and risk factors of PTDM were reviewed in this article, aiming to provide reference for clinicians to deliver prompt diagnosis and intervention for PTDM.

Letermovir para prevención de la infección por citomegalovirus en receptores de trasplante alogénico de progenitores hematopoyéticos

Introducción: La infección por citomegalovirus (CMV) sigue siendo la infección con relevancia clínica más frecuente luego del trasplante alogénico de progenitores hematopoyéticos (TPHa), presentando alta morbilidad y mortalidad. Por este motivo, es importante implementar estrategias de prevención para reducir la frecuencia de la infección por CMV. Objetivo: Describir la frecuencia de infección, infección clínicamente significativa (ICS) y enfermedad por CMV en pacientes seropositivos que recibieron un TPHa y profilaxis primaria con letermovir. Pacientes y Métodos: Estudio descriptivo de cohorte longitudinal, en pacientes con TPHa seropositivos para CMV que recibieron profilaxis primaria con letermovir hasta el día 100 posTPH. Resultados: Se incluyeron 25 pacientes adultos con una mediana de edad de 41 años, el 44% fue de donante no relacionado y 36% de donante haploidéntico. Ochenta por ciento tenía tres o más factores de riesgo para infección por CMV y a 52% se le estratificó como de alto riesgo para enfermedad por CMV. La profilaxis con letermovir tuvo una mediana de duración de 97 días. Durante los 100 días pos-TPH, 20% de los pacientes presentaron infección por CMV, con carga viral plasmática detectable no cuantificable, que se negativizó en el siguiente control semanal sin discontinuación del letermovir. Ningún paciente presentó ICS ni enfermedad por CMV durante este período. Conclusión: La profilaxis con letermovir fue efectiva para prevenir la ICS y la enfermedad por CMV.

Background: Cytomegalovirus (CMV) infection remains the most common clinically significant infection after allogeneic stem cell transplantation (aSCT), with a high morbidity and mortality rate. In order to reduce its frequency, prevention strategies should be implemented. Aim: To describe the frequency of infection, clinically significant infection (CSI) and CMV disease in seropositive patients who received aSCT and primary prophylaxis with letermovir. Methods: Longitudinal descriptive cohort study in seropositive patients who received aSCT and primary prophylaxis with letermovir until day 100 post-SCT. Results: Twenty-five adult patients with a median age of 41 years were included; 44% were unrelated donors, and 36% were haploidentical donors. Eighty percent had three or more risk factors for CMV infection, and 52% were stratified as high risk for CMV disease. Letermovir prophylaxis had a median duration of 97 days. Twenty percent of the patients developed CMV infection through day 100 post-SCT, with detectable non-quantifiable CMV viral load in plasma. This became negative in the following weekly control without discontinuation of letermovir. No patient developed CSI or CMV organ disease during this period. Conclusion: Letermovir prophylaxis proved to be effective in preventing CSI and CMV disease.

Prognostic factors and impact of CMV reactivation on acute myeloid leukemia patients after HLA-matched myeloablative allogeneic stem cell transplantation in a high CMV prevalence country

ABSTRACT Introduction: Relapse of acute myeloid leukemia (AML) after allogeneic stem cell transplantation (allo-SCT) leads to dismal outcomes. This study aimed to identify high-risk patients and explore the effects of cytomegalovirus (CMV) reactivation in a high CMV-seropositive population. Methods: The study involved a single-center retrospective cohort in Thailand, analyzing clinical risk factors and CMV-mediated immune responses, correlated with transplant outcomes in AML patients. Results: Eighty-five patients with AML in complete remission (CR) undergoing HLA-matched myeloablative allo-SCT between 2011 and February 2021 were enrolled. The relapse rate was 27.1% with the median time of 7 months after transplantation. The 3-year relapse-free-survival (RFS) and overall-survival (OS) were 72.2% and 80.8%, respectively. The disease status (>CR1) and absence of chronic graft-versus-host disease (cGVHD) were independently significant adverse prognostic factors of RFS and OS. Ninety-two percent of recipient-donor pairs were both CMV seropositive. The CMV reactivation occurred in 54.1% of the patients. The clinically significant CMV infection rate was 49.4%. No CMV syndrome/disease or CMV-related mortality occurred. One-year cumulative incidence of relapse among CMV-reactivation and non-reactivation groups were 14.3% and 25.6%, respectively, without a statistically significant difference. Transplantation-related mortality was 11.1%. Conclusions: The transplantation beyond CR1 and absence of cGVHD are powerful prognostic factors associated with inferior RFS and OS. In a high CMV prevalence country, there appears to be no impact of CMV reactivation on relapse in AML patients undergoing an allo-SCT.

Challenges of managing HIV cytomegalovirus co-infection in the presence of pancytopenia

A 60-year-old male patient who presented with generalized weakness and low-grade fever was diagnosed to be human immunodeficiency virus (HIV) positive with a CD4 count of 17. Routine laboratory investigations revealed pancytopenia. Serum cytomegalovirus (CMV) DNA polymerase chain reaction (PCR) was positive and fundoscopy showed CMV retinitis in the right eye. The patient was started on tablet valganciclovir. After 2 weeks, the patient was brought back in an altered sensorium. He was found to have hyponatremia which was corrected. He was started on antiretroviral therapy and tablet valganciclovir was continued. The patient came back again after one and a half months with a urinary tract infection and fissure-in-ano. He was found to have severe neutropenia. Valganciclovir was stopped. He was started on injection granulocyte colony-stimulating factor. The patient clinically improved and his hematological parameters became normal. Patients having HIV and CMV co-infection with pre-existing pancytopenia have to be closely monitored as the medicines used for treatment can exacerbate the existing conditions.

Unique Cytomegalovirus Tongue Ulcer in an Older Adult Patient with Prolonged Systemic Steroid Treatment

Introduction: Cytomegalovirus (CMV) is a member of the Herpesviridae family that infects humans. It infects approximately 90% of adults. It is an opportunistic pathogen, common among immunosuppressed patients and can affect multiple organs. To date, there has been only one reported case of a CMV-related tongue ulcer that occurred during steroid treatment. Case Presentation: We report a case of CMV tongue ulcer in an elder, immunodeficient patient under prolonged steroid treatment. Management and Prognosis: A 67-year-old man under chronic steroidal treatment due to severe chronic obstructive pulmonary disease (COPD), with chronic ischemic heart disease (CIHD) and poorly treated diabetes mellitus (DM) was hospitalized in Soroka university medical center. He suffered from an ulcerative wound about 10 mm in its greater diameter with raised margins on the left lateral tongue. Daktarin Oral Gel treatment showed no improvement. On histopathological examination, a diagnosis of CMV-related tongue ulcer was given. Conclusion: To the best of our knowledge, this is the most detailed case report of CMV tongue ulcer due to prolonged steroid treatment. An early diagnosis of CMV infection in patients with oral lesions is crucial because CMV infection can increase immunosuppression, and is associated with opportunistic infections.

"Blueberry muffin": Manifestación atípica de una infección congénita frecuente

El síndrome "blueberry muffin" es una dermatosis maculopapular eritematoviolácea como resultado de una hematopoyesis extramedular. Se ha asociado con infecciones del espectro TORCH y causas no infecciosas. Presentamos el caso de un recién nacido pretérmino, quien desde el control prenatal presentó una ecografía con signos sugerentes de infección congénita por citomegalovirus (microcefalia, ventriculomegalia y calcificaciones intracerebrales). Al examen físico presentaba una dermatosis macular violácea compatible con síndrome "blueberry muffin". Se detectó carga viral de citomegalovirus en orina (81,200 copias/ml) e inició tratamiento con ganciclovir, con desenlace fatal. La infección congénita por CMV debe considerarse ante el síndrome "blueberry muffin"; el adecuado abordaje diagnóstico debe ser oportuno y debe incluir antecedentes maternos y perinatales, así como estudios serológicos para infecciones por TORCH con el fin del inicio precoz de tratamiento para evitar complicaciones y secuelas.

Blueberry muffin syndrome is characterized by an erythematousviolaceous maculopapular dermatosis due to extramedullary hematopoiesis. This entity has been associated with TORCH spectrum infections and noninfectious causes. We present the case of a preterm newborn, who since the prenatal control gave an ultrasound with data suggestive of congenital infection by cytomegalovirus (microcephaly, ventriculomegaly, intracerebral calcifications). On physical examination, he presented a violaceous macular dermatosis compatible with blueberry muffin syndrome. Cytomegalovirus viral load was detected in urine (81,200 copies/ml), with fatal outcome. Congenital cytomegalovirus infection should be considered in the presence of a blueberry muffin syndrome; an adequate diagnostic approach that includes maternal and perinatal history is essential, as well as serology studies for diseases of the TORCH spectrum in order to start early with treatment and avoid major comorbidities.

Cytomegalovirus Infection-related Immune Thrombocytopenia: A Case Report / Púrpura Trombocitopênica Imune Associada à Infecção por Citomegalovírus: Relato de Caso

Immune thrombocytopenia (ITP) is an acquired cause of thrombocytopenia characterized by the presence of autoantibodies against platelets. It may be primary or secondary to several conditions. We present the case of a 63-year-old woman with a diagnosis of immune thrombocytopenia refractory to conventional therapy. After she was tested for secondary causes of ITP, a diagnosis of acute cytomegalovirus (CMV) infection was made. She was treated with ganciclovir and presented normalization of platelet count. CMV-related Immune Thrombocytopenia should always be considered in certain cases of refractory ITP. If the diagnosis of ITP secondary to acute CMV infection is made, specific antiviral therapy with ganciclovir should be considered. In these cases, immunosuppressive agents, such as steroids, may worsen the ITP and should be tapered or withdrawn as rapidly as feasible.

A Púrpura Trombocitopênica Imune (PTI) é uma causa de trombocitopenia adquirida caracterizada pela presença de autoanticorpos contra plaquetas. A doença pode ser primária ou secundária a diversas condições. Apresentamos o caso de uma mulher de 63 anos com diagnóstico de PTI refratária à terapêutica convencional. A investigação de causas secundárias evidenciou infecção aguda por citomegalovírus (CMV). A paciente foi tratada com ganciclovir e evoluiu com normalização no nível de plaquetas. A PTI relacionada ao CMV deve sempre ser investigada em pacientes com PTI refratária, sendo a terapia antiviral específica com ganciclovir o tratamento de escolha. Nestes casos, os agentes imunossupressores, como os corticosteroides, podem piorar a PTI e devem ser reduzidos gradualmente ou retirados o mais rapidamente possível.

Síndrome Edematoso Generalizado por citomegalovirus

El síndrome edematoso generalizado o anasarca está presente secundario a un desequilibrio de la homeostasis hídrica, electrolítica y osmolar del organismo, En el adulto el estado de anasarca es más frecuente secundario a insuficiencia cardiaca, en pediatría, el edema que se generaliza está asociado con más frecuencia a bajo aporte proteico, baja síntesis de proteínas o debido a perdida de proteínas de origen gastrointestinal o renal. La disminución de la presión oncótica plasmática genera fuga de líquidos a compartimientos intersticiales de forma generalizada y produce edema. Existen múltiples patologías y mecanismos para la producción del edema generalizado; el conocimiento de la fisiopatología de su desarrollo permite un análisis clínico, de laboratorio y de gabinete que orientan al diagnostico. La infección por citomegalovirus es una causa poco frecuente de edema generalizado, reconocer esta entidad y llegar a un adecuado diagnóstico diferencial es el objetivo de esta revisión.

The generalized edematous syndrome or anasarca is present secondary to an imbalance in the body's water, electrolyte and osmolar homeostasis. In adults, the state of anasarca is more frequent secondary to heart failure; in pediatrics, generalized edema is associated with more frequency due to low protein intake, low protein synthesis or due to protein loss of gastrointestinal or renal origin. The decrease in plasma oncotic pressure generates generalized fluid leakage into interstitial compartments and produces edema. There are multiple pathologies and mechanisms for the production of generalized edema; knowledge of the pathophysiology of its development allows a clinical, laboratory and office analysis that guides the diagnosis. Cytomegalovirus infection is a rare cause of generalized edema; recognizing this entity and reaching an appropriate differential diagnosis is the objective of this review.

Efficacy and safety of preemptive therapy for cytomegalovirus end-organ disease in people living with HIV: a systematic review and meta-analysis

ABSTRACT Introduction: Cytomegalovirus end-organ-disease (CMV EOD) is still a major cause of debilitating illness in people living with HIV, especially in developing countries. Objective: To evaluate the efficacy and safety of preemptive therapy against CMV EOD in HIV-positive adults with CMV viremia. Methods: Systematic review of clinical trials by searching electronic databases and clinical trial registries, screening and selection of references, data extraction and assessment of risk of bias. The results were presented in a narrative synthesis. Aggregated analyzes for dichotomous outcomes were reported as odds ratios with 95 % Confidence Intervals. Results: Four RTC were included. A reduction in the risk of CMV EOD with preemptive therapy was found OR=0.49 (95 % CI 0.31-0.76). We did not identify significant differences for all-cause mortality, adverse events, and withdrawal of the therapy secondary to adverse events. Conclusions: Preemptive therapy could be a potential option for preventing CMV EOD in people living with HIV.

Síndrome de Evans asociada a infección por citomegalovirus en una niña de 13 meses / Evans Syndrome Associated With Cytomegalovirus Infection In A 13-Month-Old Girl

Introducción: El síndrome de Evans es un desorden autoinmune poco frecuente, caracterizado por el descenso de al menos dos líneas celulares hemáticas. Las publicaciones del síndrome de Evans e infección por citomegalovirus resultan escasas. Objetivo: Examinar el caso de una niña con síndrome de Evans e infección activa por citomegalovirus que respondió favorablemente a la terapia antiviral. Presentación del caso: Niña de 13 meses con antecedentes de prematuridad y bajo peso al nacer, que acudió a consulta por presentar palidez y equimosis en tórax, abdomen y extremidades. En los exámenes de laboratorio se encontró trombocitopenia y anemia severa con prueba de Coombs directo positiva. Recibió pulsos de metilprednisolona con respuesta desfavorable. La carga viral resultó positiva para citomegalovirus (4019 copias de ADN) y recibió valganciclovir con evolución favorable en el seguimiento. Conclusiones: El síndrome de Evans asociado a infección por CMV es infrecuente. El tratamiento con valganciclovir podría ser beneficioso para cierto grupo de pacientes; sin embargo, hacen falta más estudios que demuestren la eficacia y seguridad de este tratamiento en este síndrome; más aún si está asociado a una elevada carga viral(AU)

Introduction: Evans syndrome is a rare autoimmune disorder, characterized by the descent of at least two blood cell lines. Publications of Evans syndrome and cytomegalovirus infection are scarce. Objective: To examine the case of a girl with Evans syndrome and active cytomegalovirus infection who responded favorably to antiviral therapy. Case presentation: A 13-month-old girl with a history of prematurity and low birth weight, who attended the consultation for presenting pallor and ecchymosis in the thorax, abdomen and extremities. Laboratory tests found thrombocytopenia and severe anemia after a positive direct Coombs test. She received pulses of methylprednisolone with unfavorable response. The viral load was positive for cytomegalovirus (4019 copies of DNA) and received valganciclovir with favorable evolution at follow-up. Conclusions: Evans syndrome associated with CMV infection is uncommon. Treatment with valganciclovir may be beneficial for a certain group of patients. However, more studies are needed to demonstrate the efficacy and safety of this treatment in this syndrome; even more so if it is associated with a high viral load(AU)

Sepsis por citomegalovirus en el paciente pediátrico

Introducción: La infección severa por citomegalovirus resulta inusual en pacientes inmunocompetentes, sin embargo, cuando se presenta tiene una alta carga de morbilidad. Objetivo: Examinar el caso de un paciente nacido a término, con desnutrición aguda severa que presentó sepsis secundaria a una infección por citomegalovirus. Presentación del caso: Paciente de 2 meses y 7 días de edad que se llevó al servicio de urgencias por cuadro de un día de evolución de inapetencia, y fiebre. Sin antecedentes de prematurez o de infecciones oportunistas, y adecuado desarrollo para su edad. Se trasladó a un centro de mayor complejidad por deshidratación. En dicho centro el paciente presentó deterioro pulmonar con hallazgo de bronconeumonía, deterioro gastrointestinal por distensión severa de asas, deposiciones sanguinolentas, y deterioro hematológico por anemia hemolítica. Se descartó infección de origen bacteriano y fúngico, y se estableció que la etiología presentada se debía a citomegalovirus. Se trató con valganciclovir con una buena evolución clínica. Se discutió la fisiopatología, el diagnóstico, y tratamiento en relación con el caso presentado. Conclusiones: La infección grave por citomegalovirus en el periodo posnatal resultó muy rara, sin embargo, de presentar síntomas, son principalmente gastrointestinales o pulmonares; y ante la no respuesta al tratamiento convencional de enfermedades más comunes, se debe sospechar de manera oportuna una infección por este agente, dada la alta carga de morbilidad que produce.

Introduction: Severe cytomegalovirus infection is unusual in immunocompetent patients; however, when it occurs it has a high burden of morbidity. Objective: To examine the case of a patient born at term who presented sepsis secondary to cytomegalovirus infection. Presentation of the case: A 2 months and 7 days old patient was taken to the emergency department for one day of evolution of inappetence and fever, with no history of prematurity or opportunistic infections and adequate development for his age. The patient was transferred to a more complex center due to dehydration, and in that center the patient presented pulmonary deterioration with bronchopneumonia, gastrointestinal deterioration due to severe distension of the loops, bloody stools, and hematologic deterioration due to hemolytic anemia. Bacterial and fungal infection was ruled out and the etiology was established as cytomegalovirus. She was treated with valganciclovir with a good clinical evolution. The pathophysiology, diagnosis and treatment are discussed in relation to the presented case. Conclusions: Severe cytomegalovirus infection in the postnatal period was very rare, however, if symptoms are present, they are mainly gastrointestinal or pulmonary; and in the absence of response to conventional treatment of more common diseases, an infection by this agent should be suspected in a timely manner, given the high burden of morbidity it produces.

Prenatal diagnosis and pregnancy outcome of fetuses with isolated echogenic bowel / 中华围产医学杂志

Objective:To investigate the clinical value of isolated fetal echogenic bowel (FEB) as an indicator for invasive prenatal diagnosis.Methods:This retrospective study enrolled 183 pregnant women who were diagnosed with isolated FEB and underwent invasive prenatal diagnosis in Fujian Maternity and Child Health Hospital from August 2013 to January 2021. Clinical data including the results of conventional karyotyping and chromosomal microarray analysis (CMA), cytomegalovirus (CMV) DNA loads in amniotic fluid and pregnancy outcomes were reviewed analyzed. Chi-square test was used for statistical analysis Results:Karyotyping was performed on all of the 183 fetuses and three (1.64%) aneuploidies (one case of trisomy 21, one trisomy 18 and one 47,XYY syndrome) were detected. One trisomy 21 and four pathogenic (P)/likely pathogenic (LP) copy number variation (CNV) were detected among 108 fetuses who received CMA. The detection rate of P/LP chromosomal abnormalities by CMA was higher than that by karyotyping, but there was no significant difference between them [4.63% (5/108) vs 0.93% (1/108), χ 2=1.54, P>0.05]. In addition, three cases of variants of uncertain significance (VOUS) were detected by CMA. CMV DNA loads of fetal cells in the amniotic fluid samples of the 166 cases were determined, and only one (0.6%) was positive (CMV DNA up to 7.01×10 6 copies/ml), and no abnormalities were found in karyotype analysis and CMA detection. A total of 176 cases were followed up, and among them only one case of intrauterine infection and seven cases (three aneuploidies and four P/LP CNV) of chromosomal abnormalities were terminated after genetic counseling. Three fetuses with VOUS and other 165 fetuses without chromosomal abnormalities had a good prognosis after birth. Conclusions:Isolated FEB may be the abnormal ultrasound finding in fetuses with chromosomal abnormalities or CMV infection. Prenatal genetic testing and the exclusion of intrauterine infection are important for management during pregnancy and prognosis assessment of FEB.

New progress in diagnosis and treatment of drug-resistant cytomegalovirus infection in transplant recipients / 中华器官移植杂志

This article summarizes the new progress in the diagnosis and treatment strategies on drug-resistant cytomegalovirus(CMV)infections in organ transplant recipients, including the prevention and treatment medications for CMV infection, the diagnosis and treatment strategies, and the immunological treatment regimen for drug-resistant CMV infection.The article is aimed to provide references for the prevention and treatment of drug-resistant CMV infection in organ transplant recipients.

Clinical analysis of the efficacies of ganciclovir plus foscarnet and a single antiviral drug for the treatment of cytomegalovirus infection after haploidentical stem cell transplantation / 中华内科杂志

Objective:To evaluate and compare the efficacies of ganciclovir plus foscarnet and a single agent for the treatment of cytomegalovirus (CMV) infection after haploidentical hematopoietic stem cell transplantation.Methods:This study was a non-randomized clinical controlled trial. The data of patients who underwent haploidentical transplantation and developed CMV infection between January 1, 2021, and June 30, 2021, were retrospectively analyzed. Follow-up was conducted through telephone, inpatient consultations, and the review of outpatient medical records. The observed indicators included the incidence of CMV infection (including CMV disease), rate of recurrence of CMV infection, overall survival (OS), and disease-free survival (DFS).Results:A total of 242 patients were diagnosed with post-transplantation CMV infection; 116 patients tested positive for CMV DNA for more than 14 days ( P=0.011). Of the 242 patients with CMV infection, 65 were treated with ganciclovir plus foscarnet, and 156 patients were treated with a single antiviral drug; the median durations of CMV seroconversion were 21 (3-60) and 14 (3-32) days for the combination and single-drug groups, respectively. There were no significant differences between their incidence of CMV infections and 1-year OS and DFS. Of the patients with refractory CMV infections, 53 (45.7%) were treated with ganciclovir plus foscarnet, and 63 (54.3%) were treated with a single antiviral agent. The median durations of CMV seroconversion for the combination and single-drug groups were 21 (15-60) days and 20 (15-45) days, respectively ( P=0.472). Two patients in each group progressed to CMV disease ( P=0.860). During follow-up, 12 patients (22.6%) in the combination group and 8 patients (12.7%) in the single-drug group experienced recurrent episode(s) of CMV infection ( P=0.158). The 1-year OS of the combination and single-drug groups were 92.0% and 87.1%, respectively ( P=0.543); the 1-year DFS were 90.3% and 85.7%, respectively ( P=0.665). Univariate analysis revealed no associations between the antiviral agents used and OS and DFS (OS: HR=0.644, P=0.547; DFS: HR=0.757, P=0.666). Conclusions:There were no significant differences in the duration of CMV infection, incidence of CMV disease, rate of recurrence of CMV infection, and survival of the patients treated with the combination of antiviral drugs and a single antiviral drug.

Attaching importance to the screening and full course management of congenital cytomegalovirus infection / 中华临床感染病杂志

Congenital cytomegalovirus (cCMV) infection is a most common congenital infection, which may seriously affect children’s health. The early diagnosis and timely treatment of cCMV are readily missed due to its concealed symptoms, delayed onset and long disease course, leading to long-term disability of the patients. The current screening method is sensitive, non-invasive, inexpensive and convenient, which can effectively reduce the missed diagnosis of cCMV. This article explains the importance of cCMV screening and full course management, focusing on the screening methods, strategies and current problems, as well as the plans of full course management at different stages.

Research advances in cytomegalovirus hepatitis / 临床肝胆病杂志

Cytomegalovirus hepatitis is a liver disease caused by human cytomegalovirus infection and is one of the most common liver diseases in children and immunocompromised individuals. This disease has no specific clinical manifestations and is easily confused with other types of viral hepatitis, which may lead to delayed treatment or mistreatment. Therefore, the early diagnosis of cytomegalovirus hepatitis is of vital importance, and patients should be given timely and effective treatment with appropriately selected antiviral drugs and course of treatment. This article reviews the recent research advances in the etiology, epidemiology, pathogenesis, clinical manifestations, diagnosis, treatment, and prevention of cytomegalovirus hepatitis.

The role of mammalian target of rapamycin inhibitor in virus infection of organ transplant recipients / 器官移植

At present, mammalian target of rapamycin (mTOR) inhibitors are commonly-used immunosuppressive drugs after organ transplantation, including sirolimus (rapamycin) and everolimus. mTOR inhibitors not only exert an immunosuppressive effect by inhibiting T cell proliferation, but also possess multiple potential functions, such as antiaging, anti-tumor and anti-virus infection, etc. Virus infection is one of the most common complications after organ transplantation. Current anti-viral treatments are limited and yield poor efficacy. In this article, the role of mTOR pathway in virus infection, the mechanism of common mTOR inhibitors and the role of mTOR inhibitors in different types of virus infections were reviewed, aiming to provide reference for clinical application and subsequent research of mTOR inhibitors in organ transplant recipients.

Research progress of Posner-Schlossman syndrome / 国际眼科杂志(Guoji Yanke Zazhi)

Posner-Schlossman syndrome(PSS)is a sporadic and recurrent self-limiting anterior uveitis, and its pathogenesis remains unclear. It was considered to be a prostaglandin-mediated inflammatory response. In recent years, it has been found to be related to viral infection, immune genetics, vascular endothelial dysfunction, and other factors. Clinically, the disease is predominantly unilateral. The patients with PSS suffer from increased intraocular pressure, mild pain in the affected eye, as well as blurred vision, and irisopsia. Seldom damage to the optic nerve and visual field was reported. The commonly treatment of PSS is local medication, such as anti-inflammatory drugs and intraocular pressure lowering drugs; otherwise systemic medication can be employed in severe cases. Surgical treatment can be performed for PSS if uncontrolled intraocular pressure elevation, frequent attacks, and optic nerve damage and visual field defect due to prolonged disease course. Early diagnosis and treatment of PSS can effectively reduce glaucoma-related damages. This review discussed the research progress of PSS from various aspects, aiming to provide references for the etiology, pathogenesis, and clinical diagnosis and treatment of this disease.