The Ceprano calvarium represents one of the most important sources of information about both the dynamics of the earliest hominid dispersal toward Europe and the evolution of the genus Homo in the early‐to‐middle Pleistocene. In this paper, the midsagittal vault profile and the 3D frontal bone morphology of Ceprano are investigated comparatively, using landmark coordinates and Procrustes superimposition. In fact, despite the fact that the skull appears partially distorted by diagenetic pressures (thus precluding a comprehensive landmark‐based analysis), some aspects of the overall morphology are suitable for consideration in terms of geometric morphometrics. The midsagittal profile shows an archaic shape, comparable with the H. ergaster/erectus range of variation because of the fronto‐parietal flattening, the development of the supraorbital and nuchal structures, and the occurrence of a slightly larger occipital bone. By contrast, the frontal bone displays a derived 3D shape that, mostly because of the widening of the frontal squama, appears comparable with the Afro‐European variation of the Middle Pleistocene (i.e., H. heidelbergensis/rhodesiensis). Taking into account the unique morphological pattern displayed by Ceprano, its role as a link between early Homo and the Middle Pleistocene populations of Europe and Africa is not falsified. Thus, when aspects of the Ceprano's morphology are described within the analytical framework provided by geometric morphometrics, the relationships between Ceprano and the subsequent Afro‐European fossil record are emphasized, suggesting the occurrence of an ancestral stock of H. heidelbergensis/rhodesiensis that is properly represented by the Italian specimen. Am J Phys Anthropol, 2007. © 2006 Wiley‐Liss, Inc.
To examine differences between virus-associated wheeze and wheeze associated with other triggers (multi-trigger wheeze) in elementary school children, we performed a cross-sectional school-based questionnaire study of 5,998 children mainly 7 to 12 years of age, with outliers 6 and 13 years of age. Using parent-completed questionnaires, we identified 522 children who wheezed only during upper respiratory tract infections (virus-associated wheeze), 1,186 children who wheezed on other occasions (multi-trigger wheeze), and 4,290 children with no wheeze. In comparison with children who had multi-trigger wheeze, children with virus-associated wheeze were more likely to be male, to be younger, and to have less frequent wheezy episodes. They were less likely to have night cough, shortness of breath or chest tightness, to have a personal or parental history of atopic disorders, to have a diagnosis of asthma, or to be receiving asthma treatment. Both types of wheeze were associated with social deprivation, a relationship that persisted after controlling for family smoking. Virus-associated wheeze is a common but diminishing problem in this age group, and the differences between virus-associated wheeze and multi-trigger wheeze already noted in pre-school children persist in this older age group.
An unusual case of endobronchial polyposis associated with extensive bronchiectasis in the context of cystic fibrosis (CF) has been described.A 15-yr-old female patient with CF underwent partial pneumonectomy for extensive bronchiectasis and frequent infective pulmonary exacerbations.Cylindrical bronchiectasis with associated purulent bronchitis and bronchiolitis, together with inflammatory polyposis, was noted in the resected lung.To the best of the authors' knowledge, this is the first report of multiple endobronchial polyposis and may represent a rare complication of bronchiectasis in a patient with cystic fibrosis. On-going infection and the cellular composition of the polyps are discussed in relation to their possible aetiological relevance and relationship to upper respiratory tract polyps.
Background: We aimed to describe the longitudinal changes in bone mineral content and influencing factors, in children with cystic fibrosis (CF). Methods: One hundred children (50 females) had dual X-ray absorptiometry (DXA) performed. Of these, 48 and 24 children had two to three scans, respectively over 10 years of follow-up. DXA data were expressed as lumbar spine bone mineral content standard deviation score (LSBMCSDS) adjusted for age, gender, ethnicity and bone area. Markers of disease, anthropometry and bone biochemistry were collected retrospectively. Results: Baseline LSBMCSDS was > 0.5 SDS in 13% children, between − 0.5; 0.5 SDS, in 50% and ≤ − 0.5 in the remainder. Seventy-eight percent of the children who had baseline LSBMCSDS > − 0.5, and 35% of the children with poor baseline (LSBMCSDS < − 0.5), showed decreasing values in subsequent assessments. However, mean LS BMC SDS did not show a significant decline in subsequent assessments (− 0.51; − 0.64; − 0.56; p = 0.178). Lower forced expiratory volume in 1 s percent (FEV1%) low body mass
IntroductionConstitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive disorder that results from homozygous germline mutations in one of the mismatch repair genes MLH1, MSH2, MSH6 and PMS. CMMRD syndrome results in a predisposition to childhood malignancy, with an increased risk of developing central nervous system (CNS), haematological and gastro-intestinal (GI) tract cancers. Colorectal polyps and cutaneous manifestations resembling neurofibromatosis type 1 are common. We present the case of a patient with CMMRD syndrome and bronchiectasis, an association not previously documented in the literature.Case reportA 13-year-old boy of Pakistani origin born to consanguineous parents was referred to the paediatric outpatient clinic with anaemia. Both parents had a diagnosis of Lynch syndrome and elder brother a diagnosis of CMMRD syndrome with a previous history of CNS primary neuro-ectodermal tumour and basal cell carcinoma. Consultation revealed a history of chronic productive cough and recurrent lower respiratory tract infections with evidence of finger clubbing on examination. Cutaneous manifestations included a large scalp congenital melanocytic naevus, multiple CALMs, hypopigmented lesions and axillary and inguinal freckling.Persistent left lower lobe changes were noted on chest X-ray. Bronchoscopy demonstrated normal airway anatomy with increased secretions noted from left lower lobe bronchus. CT chest confirmed a diagnosis of bronchiectasis. Sweat test and ciliary biopsy were normal. Immunoglobulin A was low at <0.7 g/L while lymphocyte subset analysis was unremarkable. Baseline pulmonary function testing demonstrated a moderate restrictive defect with no evidence of obstruction. Genetic screening was performed in light of family history which identified a familial homozygous MSH6 sequence variant, c.3175del p.(Val1059fs), consistent with a diagnosis of CMMRD syndrome.Bowel screening was undertaken and colonoscopy identified a large colorectal villous adenoma with focal high-grade dysplasia. The patient subsequently developed focal seizures and was diagnosed with a right fronto-parietal brain tumour with three metastatic lesions. Biopsy, although not conclusive, was felt to be representative of a high-grade glial or embryonal tumour.ConclusionCMMRD syndrome is associated with a complex array of clinical manifestations and a wide tumour spectrum. Bronchiectasis has not been previously documented in the literature and should be considered where a history of chronic respiratory symptoms exists.
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