Osteopetrosis

Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilosis). Classic ARO is characterised by fractures, short stature, compressive neuropathies, hypocalcaemia with attendant tetanic seizures, and life-threatening pancytopaenia. The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO. Osteopetrosis is caused by failure of osteoclast development or function and mutations in at least 10 genes have been identified as causative in humans, accounting for 70% of all cases. These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable, and paves the way to understanding natural history, specific treatment where available, counselling regarding recurrence risks, and prenatal diagnosis in severe forms. Treatment of osteopetrotic conditions is largely symptomatic, although haematopoietic stem cell transplantation is employed for the most severe forms associated with bone marrow failure and currently offers the best chance of longer-term survival in this group. The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the first decade as a complication of bone marrow suppression. Life expectancy in the adult onset forms is normal. It is anticipated that further understanding of the molecular pathogenesis of these conditions will reveal new targets for pharmacotherapy

Sintomas indicativos de disfagia em portadores de DPOC Symptoms of dysphagia in patients with COPD

OBJETIVO: Identificar os sintomas indicativos de disfagia em indivíduos portadores de DPOC a partir de um questionário de autopercepção. MÉTODOS: Foram avaliados 35 indivíduos portadores de DPOC e 35 indivíduos sem a doença pareados por gênero e idade. O grupo de estudo foi avaliado quanto a gravidade da doença, sensação de dispneia, índice de massa corpórea (IMC) e sintomas de disfagia. O grupo controle foi avaliado quanto a IMC e sintomas de disfagia. RESULTADOS: Os sintomas mais frequentes de disfagia apresentados pelos participantes do grupo de estudo foram sintomas faríngeos/proteção de vias aéreas (p < 0,001), sintomas esofágicos/histórico de pneumonia (p < 0,001) e sintomas alimentares (p < 0,001). As seguintes variáveis apresentaram correlações positivas: VEF1 e IMC (r = 0,567; p < 0,001); sintomas faríngeos/proteção de vias aéreas e dispneia (r = 0,408; p = 0,015); e sintomas esofágicos/histórico de pneumonia e sintomas faríngeos/proteção de vias aéreas (r = 0,531; p = 0,001). Houve correlação negativa entre sintomas alimentares e IMC (r = -0,046; p < 0,008). CONCLUSÕES: Os resultados mostraram que os participantes com DPOC apresentaram sintomas de disfagia relacionados à fase faríngea e esofágica da deglutição; ao mecanismo de proteção das vias aéreas; ao histórico de pneumonia e aos sintomas alimentares.<br>OBJECTIVE: To identify symptoms of dysphagia in individuals with COPD, based on their responses on a self-perception questionnaire. METHODS: The study comprised 35 individuals with COPD and 35 healthy individuals, matched for age and gender. The study group was assessed regarding COPD severity; sensation of dyspnea; body mass index (BMI); and symptoms of dysphagia. The control group was assessed regarding BMI and symptoms of dysphagia. RESULTS: The most common symptoms of dysphagia in the study group were pharyngeal symptoms/airway protection (p < 0.001); esophageal symptoms/history of pneumonia (p < 0.001); and nutritional symptoms (p < 0.001). Positive correlations were found between the following pairs of variables: FEV1 and BMI (r = 0.567; p < 0.001); pharyngeal symptoms/airway protection and dyspnea (r = 0.408; p = 0.015); and esophageal symptoms/history of pneumonia and pharyngeal symptoms/airway protection (r = 0.531; p = 0.001). There was a negative correlation between nutritional symptoms and BMI (r = -0.046; p < 0.008). CONCLUSIONS: Our results show that the individuals with COPD presented with symptoms of dysphagia that were associated with the pharyngeal and esophageal phases of swallowing, as well as with the mechanism of airway protection, a history of pneumonia, and nutritional symptoms

Alimentos na consistência líquida e deglutição: uma revisão crítica da literatura Food in liquid consistency and deglutition: a critical review of the literature

O objetivo da presente revisão de literatura foi analisar artigos científicos internacionais publicados sobre a fisiologia da deglutição de alimentos líquidos nas fases oral e faríngea. A metodologia empregada envolveu a formulação da pergunta; localização e seleção dos estudos; avaliação crítica dos artigos; conforme os preceitos do Cochrane Handbook. Foram identificados 185 artigos, dos quais se excluiu 141 por não relacionarem-se diretamente ao tema e analisou-se 29 estudos. As pesquisas estão fortemente relacionadas às formas de identificação de disfagia e não as características proporcionadas pela deglutição de diferentes consistências. Quanto à metodologia empregada nos artigos analisados observa-se que na maioria dos estudos não há grupo-controle. Os grupos estudados são heterogêneos, principalmente quando considerando indivíduos com alterações neurológicas, além disso, não há pareamento de idade na maioria dos estudos. Dessa forma, os achados desta revisão demonstram que há dificuldade na aplicabilidade clínica dos achados científicos, dificultando a prática baseada evidências.<br>The purpose of the present literature review was to analyze international scientific papers published on the physiology of swallowing fluids in the oral and pharyngeal phases. The employed methodology involved the formulation of the question, location and selection of studies, critical assessment of the manuscripts, according to the concepts of the Cochrane Handbook. We identified 185 articles, out of which 141 were excluded for not being directly related to the theme. Twenty-nine studies were analyzed. The researchers are strongly related to ways of identifying dysphagia and not the features offered by swallowing various consistencies. Regarding the methodology employed in the reviewed articles it is observed that in most studies there are no control groups. The studied groups are heterogeneous, especially when considering individuals with neurological disorders. In addition, subjects are not paired by age. Thus, the findings of this review indicate that there is great difficulty for clinicians to apply in their daily practice scientific findings, which in turn makes evidence-based practice very limited