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1.
BMC Med Genet ; 18(1): 129, 2017 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-29137621

RESUMO

BACKGROUND: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. CASE PRESENTATION: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population. We assessed all coding and splicing variants, prioritizing variants in genes known to cause interstitial lung disease. We detected a heterozygous missense mutation, p.Glu241Lys, in the COPA gene, private to the affected family members. The mutation occurred de novo in the paternal germline of the index case and was absent from 30,067 Icelandic genomes and 141,353 individuals from the genome Aggregation Database (gnomAD). The mutation occurs within the conserved and functionally important WD40 domain of the COPA protein. CONCLUSIONS: This is the second report of the p.Glu241Lys mutation in COPA, indicating the recurrent nature of the mutation. The mutation was reported to co-segregate with COPA syndrome in a large family from the USA with five affected members, and classified as pathogenic. The two separate occurrences of the p.Glu241Lys mutation in cases and its absence from a large number of sequenced genomes confirms its role in the pathogenesis of the COPA syndrome.


Assuntos
Proteína Coatomer/genética , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Mutação de Sentido Incorreto , Artrite/diagnóstico , Artrite/genética , Criança , Pré-Escolar , Feminino , Estudo de Associação Genômica Ampla , Humanos , Islândia , Lactente , Pneumopatias/diagnóstico , Pneumopatias/genética , Masculino , Linhagem
2.
Acta Paediatr ; 98(7): 1149-55, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19397551

RESUMO

AIM: The aim of our study was to get epidemiological information on bacterial infections in children treated for ALL and to analyse which patients have an enhanced infection risk. METHODS: Episodes of suspected or confirmed infections were evaluated during the first 12 months of treatment for childhood acute lymphoblastic leukaemia (ALL). RESULTS: The number of patients was 73 (43 boys). The median age was 4.6 years. A total of 179 episodes occurred, varying from none in six patients to eight in one. Bacteria were cultured in 57 episodes (31.8%), the most common being coagulase-negative staphylococci. The number of episodes fell significantly with increasing age for suspected and confirmed infections (p < 0.001 and p = 0.03). The proportion of confirmed infections was significantly higher (p < 0.001) in the first episodes. The average number of suspected infections was higher in girls than in boys (p = 0.03), but confirmed infections were not. CONCLUSION: Most of the serious infections occur early in the treatment and the number of suspected and confirmed infections falls with age. Suspicion of infection is more likely in girls, but the number of confirmed infections is equal in both sexes. Coagulase-negative staphylococcus was most commonly isolated, highlighting the importance of careful handling of central venous devices.


Assuntos
Infecções Bacterianas/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Adolescente , Distribuição por Idade , Antibacterianos/uso terapêutico , Infecções Bacterianas/tratamento farmacológico , Criança , Pré-Escolar , Escherichia coli/isolamento & purificação , Infecções por Escherichia coli/etiologia , Feminino , Humanos , Modelos Lineares , Masculino , Distribuição de Poisson , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Fatores de Risco , Distribuição por Sexo , Infecções Estafilocócicas/etiologia , Staphylococcus/isolamento & purificação
3.
Laeknabladid ; 103(7-8): 325-330, 2017.
Artigo em Is | MEDLINE | ID: mdl-28816175

RESUMO

INTRODUCTION: Sexual violence against children is a hidden problem. Medical examination and evaluation is needed to search for possible injuries, exclude infections, procure legal evidence and ensure the child´s welfare. We assessed medical evaluations done at Landspitali University Hospital and in the Reykjavik Children's House, a specialized clinic for childhood abuse cases. MATERIAL AND METHODS: Retrospective descriptive analysis was performed on the standardized medical examinations. Age, sex, waiting time from reported violence until examination and recorded aberrant external genitalia findings were noted, and classified by the medically--oriented Adams system. Offence severity stages were assigned. RESULTS: Medical examination cases numbered 224 for 220 girls aged 1-17 years. Records were available on 218 standarized examinations among girls; 201 were adequate (92%). Most were conducted within a month (medium waiting-time 28 days; range 1-166). Hymenal changes were in 24 cases possibly associated with sexual violence, including 21 in a girl not sexually active. Two girls had human papillomavirus warts (1%) and one chlamydial infection (0.5%). Medical examination was normal in 85% (165/193) of girls who were not sexually active; 24 had possibly experienced sexual violence and four results were uncertain/controversial. For 71 offence severity was serious. CONCLUSION: Most examinations were conducted on prepubertal girls, were not a matter of urgency and showed normal results. Possible relation to sexual violence was described for one in eight. Infections were rare. When child sexual abuse is suspected, care with methodology and procedures is needed, both for elective and acute medical examinations. Key words: Violence, child sexual abuse, children, external genitalia, injuries, severity grading. Correspondence: Ebba Margret Magnusdottir, ebbamag@landspitali.is.


Assuntos
Abuso Sexual na Infância/diagnóstico , Infecções por Chlamydia/diagnóstico , Condiloma Acuminado/diagnóstico , Vítimas de Crime , Exame Físico , Adolescente , Criança , Clínicas de Orientação Infantil , Pré-Escolar , Infecções por Chlamydia/microbiologia , Condiloma Acuminado/virologia , Feminino , Hospitais Universitários , Humanos , Islândia , Lactente , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Tempo
4.
Laeknabladid ; 97(12): 689-91, 2011 12.
Artigo em Is | MEDLINE | ID: mdl-22133522

RESUMO

Systemic lupus erythematosus (SLE) is an uncommon disease in children and adolescents but far from being unknown. The disease's symptoms are often non-specific and vague at first and clinicians must suspect SLE without the more specific symptoms. Treatment should be initiated as soon as possible to delay or prevent serious complications. This case demonstrates the history of a young boy who needed medical attention at the Children's Hospital of Iceland because of joint pain, swollen lymph nodes and fatigue. The epidemiology, diagnostic criteria, treatment and prognosis of children diagnosed with SLE are reviewed.


Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Artralgia/etiologia , Fadiga/etiologia , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/terapia , Doenças Linfáticas/etiologia , Masculino , Prognóstico
5.
Laeknabladid ; 96(1): 21-6, 2010 01.
Artigo em Is | MEDLINE | ID: mdl-20075443

RESUMO

BACKGROUND: Childhood cancer is the second most common cause of death in children. The aim of this study was to gather epidemiological information on childhood cancer in Iceland. METHODS: The study was population based and included all children younger than 18 years of age, diagnosed with cancer in Iceland from 1981 to 2006. Information was extracted from the Icelandic Cancer Registry and patient hospital records. RESULTS: During the study period 288 cancer cases were diagnosed in 279 children, 10 cases were secondary neoplasms. Age standardized incidence was 16.1 per 100.000 (95% CI 13,6-18,6) for boys and 12.8 per 100.000 (95% CI 10,5-15,0) for girls. There was no significant difference in the incidence rate between the first and second half of the study period. For children aged 0-14 years, the age standardized incidence was 13.6 per 100.000. The incidence was highest in the 0-4 year age group (17.3 per 100.000) and in the 15-17 year age group (19.6 per 100.000). Brain tumors (27.1%) and leukemia (25.0%) were the most common cancer groups diagnosed. Lymphoid leukemia was the most common cancer type (17.9%) and astrocytoma (13.1%) came second. CONCLUSIONS: The incidence of childhood cancer in Iceland is similar to other Western countries. Long-term follow-up is very important in childhood cancer survivors.


Assuntos
Neoplasias/epidemiologia , Adolescente , Distribuição por Idade , Criança , Pré-Escolar , Feminino , Humanos , Islândia/epidemiologia , Incidência , Lactente , Recém-Nascido , Masculino , Neoplasias/patologia , Sistema de Registros , Distribuição por Sexo , Fatores de Tempo
6.
Laeknabladid ; 96(11): 675-80, 2010 11.
Artigo em Is | MEDLINE | ID: mdl-21081790

RESUMO

OBJECTIVE: Of children diagnosed with cancer, approximately one fourth die of the disease or disease related complications. The aim of this study was to investigate survival and causes of death in children with cancer in Iceland. METHODS: This study is retrospective; population based and includes all children, less than 18 years of age, diagnosed with cancer in Iceland from 1981 to 2006. Information was extracted from the Icelandic Cancer Registry, patients hospital records and data from Statistics Iceland. RESULTS: Of 279 children diagnosed with cancer in the research period 215 were alive at the end of 2008. The overall 5-year survival was 81.2% and 10-year survival was 76.7%. There was not a significant survival difference with respect to age at diagnosis, year of diagnosis, gender or geographical residence. The small cohort size could be the explanation. Eleven individuals developed secondary neoplasm, eight of whom died. Sixteen of the 64 nonsurvivors were treated with curative intent until death, 12 of them died of therapy related complications. CONCLUSIONS: Survival rate in childhood cancer in Iceland is comparable to other Western countries. As previously reported, prognosis of patients with secondary neoplasm is unfavorable. Therapy related complications are the most common cause of death in patients treated with curative intent.


Assuntos
Neoplasias/epidemiologia , Sobreviventes/estatística & dados numéricos , Adolescente , Causas de Morte , Criança , Pré-Escolar , Feminino , Humanos , Islândia/epidemiologia , Recém-Nascido , Masculino , Neoplasias/mortalidade , Neoplasias/patologia , Neoplasias/terapia , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de Tempo , Resultado do Tratamento
7.
Laeknabladid ; 94(7-8): 531-9, 2008 Jul.
Artigo em Is | MEDLINE | ID: mdl-18591728

RESUMO

INTRODUCTION: Ten to twelve children with tumors or malignant diseases are diagnosed annually in Iceland. Cancer treatment can cause severe immune suppression, which makes the patients susceptible to serious infections. The aim of the current study was to evaluate sepsis in children with tumors or haematological malignancies, describe the types of bacteria cultured and their antibiotic susceptibilities, and collect information on associated risk factors. MATERIALS AND METHODS: This was a retrospective study on all children 0-15 years of age in Iceland who were diagnosed with a tumor or malignant disease between 1991 and 2000. Information was gathered on diagnosis, treatment, blood cultures, blood tests, antibiotic use, presence of foreign bodies (such as CVC) and survival. RESULTS: Hundred-and-eighteen children were diagnosed with cancer or benign central nervous system (CNS) tumors in Iceland during the period 1991-2000. Central nervous system tumors were most common (N=28, 23.7%), leukemia (N=21, 17.8%) and lymphoma (N=17, 14%) were the second and third. The mean age at diagnosis was 5.9 years. Sufficient data was found in the hospital records on 99 children who were included in the study. Five hundred and twenty two blood cultures were drawn from 51 of the 99 children during the period. The mean number of blood cultures per patient was 14.8 for children with leukemia, but 2.6 for children with solid tumors. Of all blood cultures, 63.6% were from a central venous catheter or a Port-A Catheter , 5% from a peripheral site, but 30% were undisclosed. Of the 522 blood cultures, 90 grew bacteria (17.2%). Coagulase-negative staphylococci were isolated from 53 blood cultures (60%) and Staphylococcus aureus from 12 (13%). Positive cultures were regarded as a definite or possible infection in 47 blood cultures (52%), contamination in 17 (18.9% ), but uncertain in 26 (27.7%). Over 60 percent of the blood cultures (N=302) were drawn when a child was neutropenic (ANC < or =1.0 *109/L). The mean length of neutropenic episodes was 9.0 days. The mean CRP level was 63.9 mg/L. The mean temperature was 38.8 degrees C. In 138 instances the child was receiving antibiotics at the time of culture (35.1%). Children with positive blood cultures had similar clinical and laboratory tests results as children with negative cultures. CONCLUSION: Gram-positive bacteria, especially coagulase-negative staphylococci, are much more common in children undergoing cancer therapy than Gram-negative bacteria. Results of blood tests appear to have low predictive values for blood culture results. No child died of a proven bacterial sepsis during the study period. Empiric antibiotic treatment at the Children s Hospital Iceland for children with malignant diseases is still effective.


Assuntos
Antineoplásicos/efeitos adversos , Bacteriemia/etiologia , Neoplasias/terapia , Adolescente , Antibacterianos/uso terapêutico , Bacteriemia/tratamento farmacológico , Bacteriemia/microbiologia , Bacteriemia/mortalidade , Criança , Pré-Escolar , Bactérias Gram-Negativas/isolamento & purificação , Bactérias Gram-Positivas/isolamento & purificação , Humanos , Islândia , Lactente , Recém-Nascido , Neoplasias/mortalidade , Radioterapia/efeitos adversos , Estudos Retrospectivos
8.
Laeknabladid ; 88(1): 13-8, 2002 Jan.
Artigo em Is | MEDLINE | ID: mdl-16940660

RESUMO

INTRODUCTION: The treatment of childhood leukemia has improved substantially over the last decades and now 65-75% of the patients recover. With increasing number of survivors it is important to know the long-term and late effects of leukemia and leukaemia treatment. PATIENTS: Of the 31 children diagnosed with leukemia in Iceland from 1981 to 1990, twenty were enrolled in the study. Average age at enrollment was16 years and 8 months (16:8) and average time since treatment ended was 8:3. METHODS: The study was carried out at the Children's Hospital at the University Hospital Iceland where patients were examined and data was gathered on height, weight, hearing, cognitive functions, bloodvalues, immunoglobulins and renal, endocrine, heart, liver and respiratory functions. RESULTS: The children studied were on average 0.48 standard deviations below target height and their body-mass index was higher at the time of study than at diagnosis. Two children had obvious obstructive lung disease. No abnormalities were found in complete blood count nor heart, liver or kidney functions. Two patients were found to have impaired hearing not attributable to acoustic trauma. In some cases abnormal values were found in immunoglobulin classes and 12 patients had decreased serum IgG2. Six needed remedial reading lessons. Three patients needed hormone replacement therapy. DISCUSSION: Minor impact on height and weight was found but the effects on lungs and hearing were inconclusive. Despite markedly decreased serum IgG2 the patients were not more prone to infections. The most obvious effects were on the endocrine system and performance at school. We conclude that the sequelae of childhood leukemia treatment in Iceland are significant and long-lasting, underlining the necessity of a careful long-term follow-up.

9.
Laeknabladid ; 88(1): 21-7, 2002 Jan.
Artigo em Is | MEDLINE | ID: mdl-16940661

RESUMO

OBJECTIVE: Tumours in the central nervous system are the second most common malignant diseases in children. With improved treatment, the number of survivors is increasing. Therefore, better knowledge of the long-term effects of the disease and the therapy is needed. The aim of the current study was to find the incidence of central nervous system tumours in Iceland, evaluate the treatment results and study the long-term effects on the individuals. MATERIAL AND METHODS: Data on diagnosis and treatment as well as demographic data were gathered from hospital records from the Reykjavik City Hospital and The University Hospital and operating lists at the Department of Neurosurgery were reviewed. On survivors, physical examination was carried out, blood tests and urine-analysis were done and hearing was tested. Social adaptation, school performance, memory, concentration and general well being were studied by a questionnaire. RESULTS: In the years 1970-1995, 57 children, aged 16 and younger, were diagnosed in Iceland with central nervous system tumours, 30 girls and 27 boys. Two children with brain metastases were excluded. Of the 55 individuals, 38 are alive today, 19 girls and 19 boys. Seventeen children had astrocytoma, grade 1 or 2 and seven had astrocytoma of grade 3 or 4. Seven children had medulloblastoma, other tumours were less common. Four patients with benign tumours in the spine were excluded from the study; three are living abroad and three refused participation. Therefore, 28 patients were included in the further study, 15 males and 13 females. The mean age at diagnoses was 7 years and 8 months (7:8) (median 6:7 years, span 0:0-15:11), the mean age at study was 21:4 years (median 20:2 years, span 7:6-39:9) and the mean time from diagnosis until study was 12:8 years (median 11:5 years, span 2:5-26:3). The mean standard deviation score for height (SDS) was -0.63 at the time of study, five of the patients had SDS below two. Five individuals need hormone replacement therapy and one patient has scoliosis. Three patients have disabilities; two of those are incapable of activities of daily life. Three patients have hearing impairment; one of them is also blind. Of five patients who had seizures when diagnosed, two still have convulsions. Of 28 patients, twelve (43%) had learning difficulties in school and ten (36%) needed remedial teaching. CONCLUSIONS: The incidence of central nervous tumours in Icelandic children is comparable to what has been reported in other countries. The results of the treatment are similar to what has been found in the other Nordic countries which maybe better than in other countries. The most prominent long-term effects among the survivors are endocrine dysfunctions and specific learning disabilities. Other, severe long-term complications are rare but have considerable effect on the individuals. We emphazise that organised, long-term follow-up is essential for these individuals, paying special attention to learning difficulties and endocrine dysfunction.

10.
Laeknabladid ; 88(11): 807-11, 2002 Nov.
Artigo em Is | MEDLINE | ID: mdl-16940615

RESUMO

OBJECTIVE: Henoch-Schönlein purpura is a disease of small vessels which primarily affects children. The epidemiology of Henoch-Schönlein purpura in Iceland is not known. The main purpose of the study was to find out the incidence of the disease in Iceland and gather further epidemiological information. PATIENTS AND METHODS: All patients diagnosed with Henoch-Schönlein purpura during the years 1984-2000 and were admitted to the Children's Hospital Iceland, Landspítali Hringbraut as well as the paediatric department at the Landspítali Fossvogi were included in the study cohort. Information was gathered from medical records. The temporal relationship between the incidende of Henoch-Schönlein purpura and epidemics of three common infectious diseases was explored. RESULTS: A total of 101 patients were found to have Henoch-Schönlein purpura, 51 females and 50 males. The incidence of Henoch-Schönlein purpura in Iceland is therefore approximately six cases annually. The mean age at diagnosis was 5.4 years. In addition to the rash, 72.3% had arthralgia and 45.5% abdominalia, 36.6% had hematuria or proteinuria during the hospitalization and 5.9% had severe renal involvement. The disease was more common in the winter months (Nov. - April) compared to the summer months (May - Oct.) (p=0.045). CONCLUSIONS: The epidemiology of Henoch-Schönlein purpura in Iceland is comparable to other countries. The disease was most common in children aged 2-5 years, which could reflect a common infection in the community as a part of the pathogenesis. Older children may have antibodies against these infections resulting in a decreased incidence of the disease. Our results support the theory that infection may play an important role in the pathogenesis of Henoch-Schönlein purpura. However, some abnormalities or variations in the immune response are probably also involved.

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