1/15. An unusual cause of rectal bleeding in a patient with cystic fibrosis.Here we identify a previously unreported cause of rectal bleeding (juvenile polyposis) in a patient with cystic fibrosis (CF). We believe this patient most likely has two coexisting genetic diseases. It also raises many issues about organ transplantation in a patient with medical conditions that individually increase the risk of gastrointestinal malignancy and stresses the diagnostic value of endoscopy in CF patients with rectal bleeding.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
2/15. Cystic fibrosis and infantile hypertrophic pyloric stenosis: is there an association?Cystic fibrosis (CF) is the most common lethal genetic disease among Caucasian populations. The generally accepted incidence of CF in the united states is 1 in 3,200 in the Caucasian population. Intestinal obstructions and atresias have been described among patients with CF. An association of CF with infantile hypertrophic pyloric stenosis (IHPS) has not been previously documented. A review in our clinic of 72 patients with CF revealed IHPS in two. The incidence of 2.7% is greater than the 0.3% incidence expected in the general population. This ninefold increase in IHPS in patients with CF suggests an association between the two and warrants further investigation.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
3/15. Complete staged palliation of hypoplastic left heart syndrome in a child with cystic fibrosis.In recent years, the palliative treatment of hypoplastic left heart syndrome (HLHS) with a three-staged surgical repair has gained widespread acceptance in north america and elsewhere and has significantly improved the life-expectancy of these children. We report on a child in whom the diagnosis of cystic fibrosis (CF) was made shortly after the first-stage palliation (modified Norwood procedure), and in which surgical palliation was successfully completed with second- (bidirectional Glenn) and third-stage (fenestrated Fontan) procedures. During this period, the child suffered several CF-related complications, i.e. repeated respiratory failure, meconium ileus and coagulation abnormalities, which required adjustment of the anaesthesia, surgical and intensive care management. Considering the trend to perform surgical corrections of major cardiac defects in the early neonatal period, before concomitant genetic diseases are discovered, paediatric cardiac anaesthesiologists, surgeons and intensivists may be confronted with more cases of open heart surgery in infants with CF in the future.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
4/15. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of dna from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent dna sequencing led to the identification of a potential splice mutation in the CFTR gene. A transition of the invariant guanosine to adenosine (1898 1G > A) was found at the splice donor site of intron 12. To determine the effect of this mutation on the patient's CFTR transcripts, rna from the nasal epithelium was reverse transcribed and amplified by the polymerase chain reaction (RT-PCR). Direct sequencing of the PCR products revealed that the transcript from the chromosome with the 1898 1G > A mutation had skipped exon 12 entirely, resulting in a joining of exons 11 and 13. Deletion of exon 12 results in the removal of a highly conserved region which encodes the Walker B consensus sequence of the first nucleotide-binding fold of CFTR.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
5/15. Cystic fibrosis with normal sweat chloride concentration--case report.Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion of cystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849 10 kb C-->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
6/15. Cystic fibrosis--a genetic dilemma.Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There are several mutations that are known to be associated with late onset disease or mild clinical disease. research continues into these genetic mutations and various modifiers that may help to more accurately predict the final phenotypic presentation.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
7/15. Cystic fibrosis in 65- and 67-year-old siblings. Clinical feature and nasal potential difference measurement in patients with genotypes F508del and 2789 5G-->A.Cystic fibrosis (CF) is a recessive genetic disease caused by defects of the cystic fibrosis trans-membrane regulator (CFTR) gene with a median survival of less than 35 years. This work reports on the oldest living German siblings with CF. Besides clinical history, CF genotype and nasal potential difference (NPD) measurement results, the remarkably high exercise activity of the siblings is discussed as a disease-modifying factor. Both male patients have an overall mild pulmonary manifestation. They have suffered from abdominal symptoms since their early childhood, including recurrent pancreatitis and diffuse symptoms leading to partial gastric resection. They were diagnosed as having CF with positive sweat tests at the advanced ages of 45 and 43 years, respectively. Later on genotyping revealed compound heterozygosity for F508del and 2789 5G-->A. Using NPD we demonstrated a CF-typical inhibition of the NPD by the Na channel blocker amiloride, although in both siblings the remaining CFTR function and alternate chloride channel function were detected during superfusion of the nasal epithelium with isoproterenol and ATP. Long-term survival with CF is basically influenced by the CFTR genotype. The patients' genotype was discussed as a mild one with remaining CFTR function. We demonstrated this residual CFTR function in both siblings using NPD. Additionally the siblings' continuous healthy lifestyle and their engagement in a remarkably high level of exercise activities from early childhood to the present possibly have an important effect on the long-term outcome of CF as disease-modifying factors. In this regard this report can encourage CF patients to maintain a high level of physical activity in their daily lives.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
8/15. Pancreatic cancer in cystic fibrosis after bilateral lung transplantation.Cystic fibrosis (CF) is the most common lethal genetic disease affecting 1 in 2500 white patients. Chronic obstructive lung disease and pancreatic insufficiency are the main clinical manifestations of CF. lung transplantation has become a treatment option for advanced pulmonary disease during the last decade. On the other hand, there is evidence from large cohort studies that CF and immunosuppression are risk factors for pancreatic cancer. Here, we report the case of an 18-year-old female patient with CF and bilateral lung transplantation who underwent Whipple procedure for pancreatic adenocarcinoma at the age of 12 years. Because of growth retardation, the patient underwent a 2-year period of growth hormone treatment before the diagnosis of pancreatic cancer. This case should sensitize physicians to be aware of the increased risk for pancreatic cancer in CF patients especially in those after lung transplantation with immunosuppression and prolonged survival.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
9/15. Massive florid reactive periostitis.Florid reactive periostitis is a rare, benign process usually occurring in the small, tubular bones of the hands and feet. Typically the lesion occurs in an adolescent or young adult and presents as a small area of pain and erythema over the affected bone. Although the histologic features may suggest malignancy, there is usually little radiographic evidence to support such a diagnosis. In the following report an unusual example of this entity is described whose large size and relentless local progression led to initial diagnostic uncertainty and eventual aggressive management. This case suggests that a wide spectrum of radiologic and morphologic changes may be seen in this entity and that a seemingly unrelated genetic disease may alter the typical clinical course.- - - - - - - - - - ranking = 1keywords = genetic disease (Clic here for more details about this article) |
10/15. uniparental disomy as a mechanism for human genetic disease.A female with cystic fibrosis and short stature was investigated for molecular or cytogenetic abnormalities that might explain the combined phenotype. Analysis with polymorphic dna markers indicated that the father did not contribute alleles to the propositus for markers near the CF locus or for centromeric markers on chromosome 7. High-resolution cytogenetic analysis was normal, and the result could not be explained on the basis of nonpaternity or a submicroscopic deletion. All of the data indicate that the propositus inherited two identical copies of maternal sequences for much or all of chromosome 7. The occurrence of uniparental disomy could be explained by models postulating postfertilization error, gamete complementation, monosomic conception with subsequent chromosome gain, or trisomic conception followed by chromosome loss. uniparental disomy in an individual with a normal chromosome analysis is a novel mechanism for the occurrence of human genetic disease.- - - - - - - - - - ranking = 5keywords = genetic disease (Clic here for more details about this article) |
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