Polymorphism of chromosome 9. Presentation of two cases

Polymorphic variants on chromosomes 1, 9, 16, and on the Y chromosome are more frequent in the infertile person than in the general population; the presence of these variants in one or both members of the couple could increase the frequency of idiopathic cause infertility. Chromosome 9 is structurally highly polymorphic and contains the longest region of heterochromatin in humans. For these reasons and because of the indisputable importance of the cytogenetic study in men with severe seminal disorders, as part of the accurate and timely diagnosis of the couple with reproductive failure, the cases of two patients who were treated at the Cienfuegos Regional Center of Assisted Reproduction , for an infertility study. A cytogenetic study was performed and chromosome 9 polymorphism was diagnosed

Malignancy Risk in Patient with Neurofibromatosis and Autosomal Dominant Polycystic Kidney Disease

Cancer appearance in some inherited diseases depends on the interactions with other genes. Lung cancer is rare in neurofibromatosis and has not been reported in Caucasian population. In this paper, we present the case of lung adenocarcinoma in a patient with neurofibromatosis, pseudoarthrosis of tibia, and autosomal dominant polycystic kid - ney disease. Cytogenetic analysis of the pleural effusion showed chaotic cleavage and constitutional inversion of chro- mosome 9, transmitted from the mother. Family investiga tion revealed two autosomal dominant diseases, neuro- fibromatosis and polycystic kidney disease in the same family. These findings suggest that the second autosomal dominant disease in the family and inversion of chromosome 9 contributed to the severity of neurofibromatosis and pa- tient’s risk to malignancies

Malignancy Risk in Patient with Neurofibromatosis and Autosomal Dominant Polycystic Kidney Disease

Cancer appearance in some inherited diseases depends on the interactions with other genes. Lung cancer is rare in neurofibromatosis and has not been reported in Caucasian population. In this paper, we present the case of lung adenocarcinoma in a patient with neurofibromatosis, pseudoarthrosis of tibia, and autosomal dominant polycystic kid - ney disease. Cytogenetic analysis of the pleural effusion showed chaotic cleavage and constitutional inversion of chro- mosome 9, transmitted from the mother. Family investiga tion revealed two autosomal dominant diseases, neuro- fibromatosis and polycystic kidney disease in the same family. These findings suggest that the second autosomal dominant disease in the family and inversion of chromosome 9 contributed to the severity of neurofibromatosis and pa- tient’s risk to malignancies

Is transition from paediatric to adult healthcare with a life-limiting condition associated with more unplanned hospital care?

Life-limiting conditions, which shorten or threaten to shorten life, are becoming increasingly prevalent among young people in England, attributed partly to longer survival. There are concerns about the transition from paediatric to adult healthcare.. Specialist paediatricians oversee childhood healthcare, with needed allied services provided continuously. A General Practitioner (GP) often coordinates adult healthcare; GPs may lack knowledge of the young person or condition. There can be provision gaps in allied services. Sometimes no equivalent adult service. These issues may lead to an increase in unplanned hospital care. Previous research is limited to a few more prevalent conditions and has used small, potentially unrepresentative, samples or used age to assign transition status, risking misclassification. I aimed to determine whether there is an association between transition from paediatric to adult healthcare and increased unplanned hospital care for young people with life-limiting conditions, to understand the nature of the population, including changing medical complexity and to explore the role of primary care. I used secondary data analyses of routinely collected healthcare data in England and a systematic review. My research was the first to analyse healthcare use across the transition using national data with transition point estimated for each individual, using a newly- developed method. I found the population of young people with life-limiting conditions transitioning to adult healthcare is growing in size and medical complexity, with more comorbidities and consultants of more different specialities involved. Evidence from previous studies was mixed and conflicting on changes in healthcare use at transition and there was a lack of UK studies. My research found unplanned hospital care increases for young people with life-limiting conditions after the transition and regular contact with the same GP is associated with reduced use of unplanned hospital care. The role of the GP should be considered in reforms to improve transition

Clinical and genetic investigation of the epsilon-sarcoglycan complex in neurologic and psychiatric disease

Myoclonus Dystonia Syndrome is a childhood onset hyperkinetic movement disorder characterised by alcohol responsive upper body myoclonus and dystonia. A proportion of cases are due to mutations in the maternally imprinted SGCE gene, which encodes the transmembrane epsilon-sarcoglycan protein. Previous studies suggest an increased rate of psychiatric disorders in those with SGCE mutations. This study aimed to establish a cohort of myoclonus dystonia syndrome patients, identify the rate and type of SGCE mutations, determine differences in motor characteristics between mutation positive and negative cases and whether psychiatric disorders form part of the disease phenotype. Eighty-nine probands with clinically suspected MDS were recruited. Information regarding onset and distribution of motor symptoms was collected via systematic questionnaires and video taped examination. SGCE was analysed using direct sequencing and for copy number variants. Psychiatric symptoms were assessed using systematic and standardised questionnaires and compared to a disability-matched, alcohol responsive tremor control group. Nineteen (21%) probands had an SGCE mutation. All had evidence of upper body predominant myoclonus and dystonia during their disease course. Five had contiguous gene deletions ranging from 0.7 to 2.3Mb in size with distinctive clinical features. Recruitment of family members increased the affected SGCE mutation positive group to 27 of whom 21 (77%) had psychiatric symptoms. Obsessive-Compulsive Disorder was eight times more likely (p<0.001) in mutation positive cases, compulsivity being the predominant feature (p<0.001). Generalized Anxiety Disorder (p=0.003) and alcohol dependence (p=0.02) were five times more likely in cases than tremor controls. Overall, SGCE mutations are associated with a narrow clinical and specific psychiatric phenotype. The presence of myoclonus, dystonia, age at onset ≤10 years and a positive family history of the disorder are the strongest predictors of an SGCE mutation. SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms