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Acta Derm Venereol ; 99(9): 789-796, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31037311


Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple Allergies, Metabolic wasting) and a SAM-like phenotype has been reported in 4 subjects with different heterozygous DSP variants. We report here a patient with a novel DSP spectrin region (SR) 6 variant c.1756C>T, p.(His586Tyr), novel features of brain lesions and severe recurrent mucocutaneous herpes simplex virus infections, with a favourable response to ustekinumab. Through a review of reported cases of heterozygous variants in DSP SR6 (n = 15) and homozygous or compound heterozygous variants in DSG1 (n = 12) and SAM-like phenotype, we highlight phenotypic variability. Woolly hair, nail abnormalities and cardiomyopathy characterize patients with DSP variants, while elevated immunoglobulin E and food allergies are frequent in patients with DSG1 variants. Clinicians should be aware of the diverse manifestations of desmosomopathies.

Artigo em Inglês | MEDLINE | ID: mdl-29554325


Background: Congenital cytomegalovirus (cCMV) infection is the most common congenital infection and causes significant morbidity. This study was undertaken to evaluate the benefits of screening newborns for cCMV and to understand the cCMV disease burden in Finland. Methods: Infants born in Helsinki area hospitals were screened for CMV by testing their saliva with a real-time polymerase chain reaction assay. The CMV-positive infants and matched controls were monitored to determine their neurodevelopmental, audiological, and ophthalmological outcomes at 18 months of age. Griffiths Mental Development Scales, otoacoustic emission and sound field audiometry, and ophthalmologic examination were performed. Results: Of the 19868 infants screened, 40 had confirmed cCMV infection (prevalence, 2 in 1000 [95% confidence interval, 1.4-2.6 in 1000]). Four (10%) infants had symptomatic cCMV. Griffiths general quotients did not differ significantly between the CMV-positive (mean, 101.0) and control (mean, 101.6) infants (P = .557), nor did quotients for any of the Griffiths subscales (locomotion, personal-social, hearing and language, eye and hand, performance) (P = .173-.721). Four of 54 CMV-positive ears and 6 of 80 CMV-negative ears failed otoacoustic emission testing (P = 1.000). The mean minimal response levels over the frequencies 500 Hz to 4 kHz in the sound field audiometry did not differ between CMV-positive (mean, 34.31-dB hearing level) and control (mean, 32.73-dB hearing level) infants (P = .338). No CMV-related ophthalmologic findings were observed. Conclusions: The prevalence of cCMV was low, and outcomes at 18 months of age did not differ between the infected infants and healthy control infants. With such a low burden in Finland, universal newborn screening for cCMV seems unwarranted.

Vaccine ; 35(12): 1608-1614, 2017 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-28233625


Healthcare workers (HCWs) pose a risk to themselves and their patients if not protected against vaccine-preventable diseases. Alarmingly, lacking immunity has been reported in several studies. We assessed the immunity against vaccine-preventable diseases in 157 pediatric HCWs in Helsinki Children's Hospital. The HCWs enrolled answered a questionnaire and gave a serum sample. Antibodies were measured with EIA against MMR-diseases, tetanus and diphtheria toxins, Hepatitis B (HBV), Hepatitis A (HAV), varicella zoster and pertussis toxin. Neutralizing antibodies against poliovirus 1, 2 and 3 were measured. All of the HCWs had antibodies against tetanus and 89.8% against diphtheria. All had measurable levels of polio antibodies to all three polioviruses. 41% had suboptimal levels of antibodies against at least one of the antigens tested: MMR-viruses, diphtheria, HBV or polio. Measles, mumps and rubella antibodies were detectable in 81.5%, 89.2% and 93%, respectively. Only one HCW had no varicella-antibodies. Hepatitis B surface antibodies (HBsAb) were detected in 89.8% of the nurses. 67.5% had HAV-antibodies. A poor correlation between detected antibody levels and reported vaccination history was noticed, indicating a need for a universal record system for registering the vaccines given to each individual.

Anticorpos Antibacterianos/sangue , Anticorpos Antivirais/sangue , Doenças Transmissíveis/imunologia , Pessoal de Saúde , Adolescente , Adulto , Idoso , Feminino , Finlândia , Hospitais Pediátricos , Humanos , Técnicas Imunoenzimáticas , Masculino , Pessoa de Meia-Idade , Estudos Soroepidemiológicos , Inquéritos e Questionários , Adulto Jovem
Infect Dis (Lond) ; 49(6): 445-453, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28116961


BACKGROUND: Both primary and non-primary maternal cytomegalovirus (CMV) infection during pregnancy can lead to vertical transmission. We evaluated the proportion of maternal primary/non-primary infections among 26 babies with symptomatic congenital CMV infection born in Finland from 2000 to 2012. METHODS: We executed a database search on hospital records from all five university hospitals in Finland to identify infants with congenital CMV infection. The preserved maternal serum samples drawn at the end of the first trimester were analysed for CMV antibodies. Maternal infection was classified to be non-primary, if there was high avidity CMV immunoglobulin G (IgG) in the early pregnancy samples. Infection was considered primary in the case of either low avidity IgG (primary infection in the first trimester or near conception) or absent CMV IgG at the end of the first trimester (primary infection in the second or third trimester). RESULTS: The majority of the symptomatic congenital CMV infections (54%) were due to maternal non-primary infection, 27% due to maternal primary infection in the first trimester or near conception, and 19% during the second or third trimester. Long-term sequelae occurred in 59% of patients: in 6/7 after primary infection in the first trimester, in 0/5 after primary infection in the second or third trimester, and in 9/14 after non-primary infection. CONCLUSIONS: In this register-based cohort, non-primary infections caused the majority of symptomatic congenital CMV infections, and resulted in significant morbidity.

Anticorpos Antivirais/sangue , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/etiologia , Doenças Fetais/virologia , Transmissão Vertical de Doença Infecciosa , Complicações Infecciosas na Gravidez/virologia , Sistema de Registros , Adolescente , Citomegalovirus/imunologia , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/epidemiologia , Infecções por Citomegalovirus/virologia , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/epidemiologia , Doenças Fetais/imunologia , Finlândia/epidemiologia , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Imunoglobulinas/sangue , Imunoglobulinas Intravenosas , Lactente , Recém-Nascido , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X , Adulto Jovem
Infect Dis (Lond) ; 48(5): 406-10, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26654892


Maternal herpesvirus infections during pregnancy may cause fetal and neonatal infections. We investigated the seroprevalence of five herpesviruses: cytomegalovirus (CMV), herpes simplex virus (HSV) 1 and 2, varicella zoster virus (VZV) and Epstein-Barr virus (EBV) in randomly selected samples from pregnant Finnish women from the years 1992, 2002 and 2012. Over 20 years, the seroprevalences decreased significantly for CMV from 84.5% to 71.5% (p = 0.007) and HSV-1 from 69.5% to 45% (p < 0.001). The decrease in seroprevalence for HSV-2 (from 17.5% to 11%) was not statistically significant. The seroprevalence remained unchanged for VZV and EBV. The proportion of mothers with no antibodies to either HSV-1 or HSV-2 increased from 25.5% to 48% (p < 0.001). The seroprevalences for HSV-1 and HSV-2 increased in relation to age, which shows that women of childbearing age do contract primary HSV infections. Our findings indicate that a considerable proportion of women (48%) are at risk for primary HSV infection during pregnancy.

Infecções por Herpesviridae , Herpesviridae/imunologia , Adulto , Anticorpos Antivirais/sangue , Estudos Transversais , Feminino , Finlândia/epidemiologia , Infecções por Herpesviridae/epidemiologia , Infecções por Herpesviridae/imunologia , Infecções por Herpesviridae/virologia , Humanos , Gravidez , Estudos Soroepidemiológicos , Adulto Jovem
Int J Pediatr Otorhinolaryngol ; 78(10): 1774-8, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25081603


Kawasaki disease is an acute systemic vasculitis of childhood. The diagnosis is based on clinical criteria. Prognosis with adequate treatment is favorable. Untreated patients, however, may develop coronary manifestations predisposing to acute myocardial infarction. Retropharyngeal edema is a rare but known manifestation of Kawasaki disease. We present a case series of four Kawasaki patients presenting with clinical findings for retropharyngeal abscess and the magnetic resonance imaging findings of these patients, diagnosed during a six week period. To our knowledge, this is the first systematic report of cervical MRI findings of Kawasaki patients.

Anti-Inflamatórios não Esteroides/uso terapêutico , Aspirina/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Imagem por Ressonância Magnética/métodos , Síndrome de Linfonodos Mucocutâneos/complicações , Cervicalgia/diagnóstico , Abscesso Retrofaríngeo/diagnóstico , Criança , Pré-Escolar , Edema , Humanos , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Abscesso Retrofaríngeo/etiologia , Abscesso Retrofaríngeo/terapia