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1.
Genes Chromosomes Cancer ; 52(7): 656-64, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23629955

RESUMO

Constitutional mismatch repair deficiency (CMMR-D) due to biallelic germline mutations in one of four mismatch repair genes causes a childhood cancer syndrome characterized by a broad tumor spectrum including hematological malignancies, and brain and Lynch syndrome-associated tumors. Herein, we report three children who had in addition to CMMR-D-associated malignancies multiple pilomatricomas. These are benign skin tumors of hair matrical differentiation frequently associated with somatic activating mutations in the ß-catenin gene CTNNB1. In two of the children, the diagnosis of CMMR-D was confirmed by the identification of biallelic germline PMS2 mutations. In the third individual, we only found a heterozygous germline PMS2 mutation. In all nine pilomatricomas with basophilic cells, we detected CTNNB1 mutations. Our findings indicate that CTNNB1 is a target for mutations when mismatch repair is impaired due to biallelic PMS2 mutations. An elevated number of activating CTNNB1 alterations in hair matrix cells may explain the development of multiple pilomatricomas in CMMR-D patients. Of note, two of the children presented with multiple pilomatricomas and other nonmalignant features of CMMR-D before they developed malignancies. To offer surveillance programs to CMMR-D patients, it may be justified to suspect CMMR-D syndrome in individuals fulfilling multiple nonmalignant features of CMMR-D (including multiple pilomatricomas) and offer molecular testing in combination with interdisciplinary counseling.


Assuntos
Adenosina Trifosfatases/genética , Neoplasias Encefálicas/genética , Neoplasias Colorretais/genética , Enzimas Reparadoras do DNA/genética , Proteínas de Ligação a DNA/genética , Síndromes Neoplásicas Hereditárias/genética , Pilomatrixoma/genética , Neoplasias Cutâneas/genética , beta Catenina/genética , Adolescente , Neoplasias Encefálicas/patologia , Pré-Escolar , Neoplasias Colorretais/patologia , Humanos , Endonuclease PMS2 de Reparo de Erro de Pareamento , Mutação , Síndromes Neoplásicas Hereditárias/patologia , Pilomatrixoma/patologia , Neoplasias Cutâneas/patologia
2.
Pediatr Dermatol ; 26(1): 75-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19250412

RESUMO

Pilomatricomas are benign skin tumors originating from hair follicle matrix cells. In 2% to 3.5% of cases they occur in multiplicity and then may be associated with genetic diseases, such as myotonic dystrophy Curschmann-Steinert, familial adenomatous polyposis (Gardner syndrome), and Rubinstein-Taybi syndrome. A 15-year-old boy treated with temozolomide and oxcarbazepine for gliomatosis cerebri with symptomatic epilepsy developed four firm cutaneous nodules on his face and right upper arm in the course of 1 year. All four tumors were excised under local anesthesia. Histological examination confirmed the clinical diagnosis of pilomatricomas. This is the first published case of a patient suffering from gliomatosis cerebri and developing multiple pilomatricomas. Whether this observation represents a new association or is a mere coincidence cannot be clarified at present.


Assuntos
Neoplasias Encefálicas/complicações , Doenças do Cabelo/complicações , Neoplasias Neuroepiteliomatosas/complicações , Pilomatrixoma/complicações , Neoplasias Cutâneas/complicações , Adolescente , Biópsia , Neoplasias Encefálicas/patologia , Doenças do Cabelo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Primárias Múltiplas/genética , Neoplasias Primárias Múltiplas/patologia , Neoplasias Neuroepiteliomatosas/patologia , Pilomatrixoma/genética , Pilomatrixoma/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia
3.
Dev Med Child Neurol ; 48(1): 5-9; discussion 4, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16359587

RESUMO

The aim of this study was to assess the therapeutic efficacy of osteopathic treatment in infants with postural asymmetry. A randomized clinical trial of efficacy with blinded videoscoring was performed. Sixty-one infants with postural asymmetry aged 6 to 12 weeks (mean 9wks) were recruited. Thirty-two infants (18 males, 14 females) with a gestational age of at least 36 weeks were found to be eligible and randomly assigned to the intervention groups, 16 receiving osteopathic treatment and 16 sham therapy. After a treatment period of 4 weeks the outcome was measured using a standardized scale (4-24 points). With sham therapy, five infants improved (at least 3 points), eight infants were unchanged (within 3 points), and three infants deteriorated (not more than -3 points); the mean improvement was 1.2 points (SD 3.5). In the osteopathic group, 13 infants improved and three remained unchanged; the mean improvement was 5.9 points (SD 3.8). The difference was significant (p=0.001). We conclude that osteopathic treatment in the first months of life improves the degree of asymmetry in infants with postural asymmetry.


Assuntos
Osteopatia/métodos , Doenças Neuromusculares/reabilitação , Doenças Neuromusculares/terapia , Postura , Feminino , Humanos , Lactente , Masculino , Resultado do Tratamento
4.
Paediatr Respir Rev ; 3(3): 265-72, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12376064

RESUMO

Epidemiological surveys have indicated that there has been a notable increase in the prevalence of both asthma and other allergic symptoms in children and young adults. Since it seems unlikely that genetic factors would contribute to the rising trend, environmental factors might play a major part in the development of childhood asthma. In a prospective birth-cohort study, we assessed the relevance of different exposures such as mite and cat allergen exposure, environmental tobacco smoke (ETS) exposure, early infectious diseases and vaccinations for the development of childhood asthma up to the age of 10 years. Data up to 7 years of age have been evaluated. Of 1314 newborn infants enrolled in five German cities in 1990, follow-up data at age 7 years were available for 939 children (72%). Assessments included repeated measurements of specific IgE to food and inhalant allergens, measurement of indoor allergen exposure at 6 months, 18 months and 3 years of age and yearly interviews by a paediatrician. At age 7 years, pulmonary function was tested and bronchial responsiveness was determined in 645 children. At age 7, the prevalence of wheezing in the past 12 months was 10% (94 out of 938), and 6.1% (57 out of 939) parents reported a doctor's diagnosis of asthma in their children. Sensitisation to indoor allergens was associated with asthma, wheeze and increased bronchial responsiveness. However, no relationship between early indoor allergen exposure and the prevalence of asthma, wheeze and bronchial responsiveness was seen. During the first 3 years of life, intra-uterine tobacco and consistent ETS exposure have an adjuvant effect on allergic sensitisation that is transient and restricted to children with a genetic predisposition for allergy. Children sensitised to any allergen early in life and sensitised to inhalant allergens by the age of 7 years were at a significantly increased risk of being asthmatic at this age (odds ratio (OR) = 10.12; 95% confidence interval (CI) = 3.81-26.88). Children with repeated episodes (> or =2) of runny nose before the age of 1 year were less likely to develop asthma by the age of 7 years (OR = 0.52; 95% CI = 0.29-0.92). Our data do not support the hypothesis that exposure to environmental allergens directly causes asthma in childhood but that induction of specific IgE responses and the development of childhood asthma are determined by independent factors. Indoor allergen avoidance is recommended as first line treatment in secondary and tertiary prevention; however, conclusions should be drawn with caution about the possible effect of primary preventative measures. Since allergic asthma seems to be a Th2-disease, immunomodulating factors such as early childhood infections, LPS-exposure or other factors influencing gene-environment interaction and individual susceptibility seem to be relevant for the development of childhood asthma.


Assuntos
Asma/epidemiologia , Asma/imunologia , Animais , Hiper-Reatividade Brônquica/imunologia , Criança , Estudos de Coortes , Alemanha , Humanos , Recém-Nascido , Ácaros/imunologia , Estudos Multicêntricos como Assunto , Prevalência , Sons Respiratórios/imunologia , Classe Social
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