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Molecular Genetic Testing (molecular + genetic_testing)
Selected AbstractsVariability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patientsPEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 7 2005G. Claret Teruel Ataxia telangiectasia (AT) is an infrequent condition, which is difficult to diagnose in children. The objective was to describe the evolution of all affected patients controlled in our hospital and to highlight the keys for an early diagnosis considering the variability of immunological disorders. The present study is a retrospective review of all patients diagnosed and controlled of AT in our hospital. Twelve patients were found, including two couples of siblings. The most frequent reason for consultation was unstable gait. Seven patients suffered repeated infections, being pneumonia the most frequent cause of infection, followed by sinusitis. One of the patients developed Burkitt's lymphoma, and another patient, Hodgkin's lymphoma, which caused the death of the patient at the age of 11. A couple of siblings aged 17 and 22 years developed insulin-resistant diabetes mellitus. The most frequent immunity disorders were the IgG deficiency and the decrease of T lymphocytes. Seven patients were treated with non-specific gamma-globulin. By the end of the follow-up, 8 patients (ages ranged 7 to 12 years) lost gait. Molecular genetic testing was conducted in patients who are still cared for in our hospital. Clinical suspicion of this entity will lead to an early diagnosis, the treatment of complications, and to provide genetic counselling for the families. [source] A de Novo PABPN1 Germline Mutation in a Patient with Oculopharyngeal Muscular Dystrophy,THE LARYNGOSCOPE, Issue 1 2006Nicolas Gürtler Abstract Background: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominantly inherited disorder characterized by dysphagia, ptosis, and proximal limb weakness and is caused by germline mutations (triplet repeat expansions) in the polyadenylate binding protein nuclear 1 (PABPN1) gene. Objective: To describe a 70-year-old female patient with OPMD on the clinical and molecular genetic level and to develop a rapid and efficient molecular genetic screening method to study large patient groups. Methods: Detailed family history and clinical assessment of the OPMD patient were followed by mutation analysis of the PABPN1 gene by direct DNA sequencing and by our newly developed method, fluorescent PABPN1 polymerase chain reaction (PCR) product (flPPP) method. A cohort of 50 healthy Swiss probands was screened using the flPPP to assess the frequency of the (GCG)7 allele in the Swiss population. Cricopharyngeal myotomy was performed as treatment for dysphagia. Results: A heterozygous (GCG)9 triplet repeat expansion in PABPN1 was identified. Since the family history proved to be negative, the mutation is likely to have occurred de novo. The frequency of the (GCG)7 allele among healthy Swiss controls amounted to 1%. The flPPP method showed a sensitivity and specificity of 100%. Two years after cricopharyngeal myotomy, the patient is still relieved of dysphagia. Conclusions: An otolaryngologist should include OPMD in the differential diagnosis of a patient presenting with dysphagia, as this symptom can be the first sign of the disease and family history can be negative. Molecular genetic testing represents a highly accurate and rapid way to confirm the clinical diagnosis of OPMD. Cricopharyngeal myotomy relieves the patient of dysphagia in the majority of cases. [source] Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)DIABETIC MEDICINE, Issue 6 2010J. Grulich-Henn Diabet. Med. 27, 709,712 (2010) Abstract Aims, The aim of this study was to elucidate the entities and the frequency of neonatal diabetes mellitus (NDM) in a large representative database for paediatric diabetes patients in Germany and Austria. Methods, Based on the continuous diabetes data acquisition system for prospective surveillance (DPV), which includes 51 587 patients with onset of diabetes before the age of 18 years from 299 centres in Germany and Austria, we searched for patients with onset of diabetes mellitus in the first 6 months of life. Results, Ninety patients were identified, comprising 0.17% of all paediatric cases in the DPV registry. This represented an incidence of approximately one case in 89 000 live births in Germany. A monogenic basis for NDM was established in 30 subjects (seven UPD6, 10 KCNJ11, seven ABCC8, two FOXP3, two PDX1, one INS, one EIF2AK3). Pancreatic hypoplasia or agenesis was reported in 10 patients and seven subjects were classified as having Type 1 diabetes by their centres. Transient neonatal diabetes (TNDM) accounted for approximately 10% of all cases with NDM. No aetiology was defined in 41 subjects, which may reflect incomplete genetic testing or novel genetic aetiologies. Conclusion, Based on a large database, we identified a higher rate of NDM in Germany than has been reported previously. Full molecular genetic testing should be performed in all patients diagnosed before 6 months of age. [source] Monogenic diabetes: information seeking and genetic testing access via e-mailEUROPEAN DIABETES NURSING, Issue 2 2010M Shepherd RGN, PhD Honorary Clinical Senior Lecturer Abstract Background: Confirmation of monogenic diabetes by molecular genetic testing has allowed many patients, often previously assumed to have type 1 diabetes, to transfer from insulin injections to sulphonylurea tablets, with improvements in glycaemic control and quality of life: www.diabetesgenes.org provides information about monogenic diabetes and genetic testing. Aim: To investigate key issues raised by individuals who e-mailed the monogenic diabetes team about genetic testing and monogenic diabetes management. Methods: Sixty e-mail enquiries, received over a six-month period from patients and professionals worldwide, were analysed using a qualitative thematic content approach. Results: Five themes emerged: 1. Accessing genetic technology: patients and professionals both enquired about access to testing; 2. Presentation of evidence: medical facts presented by patients and professionals included characteristics specifically relevant to diagnosing monogenic diabetes; 3. Experiences of healthcare: patients often researched their condition online and some felt dissatisfied with routine consultations; 4. Seeking specialist advice regarding treatment: specific information was sought relating to management of neonatal diabetes or monogenic diabetes and pregnancy; 5. Searching for a cure through genetic technology: patients questioned whether genetic advances would lead to a cure for diabetes. Conclusion: This project offers the first insights into use of e-mail as a means of gaining access to a specialist monogenic team and information about genetic testing. Although providing advice via e-mail can prove complicated, particularly when received from patients under the care of other clinicians, it is an efficient means of communicating specialist knowledge. Study findings will aid development of a ,frequently asked questions' section of www.diabetesgenes.org. Copyright © 2010 FEND [source] Let them fly or light them up: matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry and fluorescence in situ hybridization (FISH),APMIS, Issue 11-12 2004BIRGITTA SCHWEICKERT This review focuses on clinical bacteriology and by and large does not cover the detection of fungi, viruses or parasites. It discusses two completely different but complementary approaches that may either supplement or replace classic culture-based bacteriology. The latter view may appear provocative in the light of the actual market penetration of molecular genetic testing in clinical bacteriology. Despite its elegance, high specificity and sensitivity, molecular genetic diagnostics has not yet reached the majority of clinical laboratories. The reasons for this are manifold: Many microbiologists and medical technologists are more familiar with classical microbiological methods than with molecular biology techniques. Culture-based methods still represent the work horse of everyday routine. The number of available FDA-approved molecular genetic tests is limited and external quality control is still under development. Finally, it appears difficult to incorporate genetic testing in the routine laboratory setting due to the limited number of samples received or the lack of appropriate resources. However, financial and time constraints, particularly in hospitals as a consequence of budget cuts and reduced length of stay, lead to a demand for significantly shorter turnaround times that cannot be met by culture-dependent diagnosis. As a consequence, smaller laboratories that do not have the technical and personal equipment required for molecular genetic amplification techniques may adopt alternative methods such as fluorescence in situ hybridization (FISH) that combines easy-to-perform molecular hybridization with microscopy, a technique familiar to every microbiologist. FISH is hence one of the technologies presented here. For large hospital or reference laboratories with a high sample volume requiring massive parallel high-throughput testing we discuss matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF) of nucleic acids, a technology that has evolved from the post-genome sequencing era, for high-throughput sequence variation analysis (1, 2). [source] Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenitaACTA NEUROLOGICA SCANDINAVICA, Issue 2 2010C. Kornblum Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist-Retzow J-C, Jurkat-Rott K, Wattjes MP. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Acta Neurol Scand: 2010: 121: 131,135. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Background,,, Muscle magnetic resonance imaging (MRI) is the most sensitive method in the detection of dystrophic and non-dystrophic abnormalities within striated muscles. We hypothesized that in severe myotonia congenita type Becker muscle stiffness, prolonged transient weakness and muscle hypertrophy might finally result in morphologic skeletal muscle alterations reflected by MRI signal changes. Aim of the study,,, To assess dystrophic and/or non-dystrophic alterations such as fatty or connective tissue replacement and muscle edema in patients with severe recessive myotonia congenita. Methods,,, We studied three seriously affected patients with myotonia congenita type Becker using multisequence whole-body high-field MRI. All patients had molecular genetic testing of the muscle chloride channel gene (CLCN1). Results,,, Molecular genetic analyses demonstrated recessive CLCN1 mutations in all patients. Two related patients were compound heterozygous for two novel CLCN1 mutations, Q160H and L657P. None of the patients showed skeletal muscle signal changes indicative of fatty muscle degeneration or edema. Two patients showed muscle bulk hypertrophy of thighs and calves in line with the clinical appearance. Conclusions,,, We conclude that (i) chloride channel dysfunction alone does not result in skeletal muscle morphologic changes even in advanced stages of myotonia congenita, and (ii) MRI skeletal muscle alterations in myotonic dystrophy must be clear consequences of the dystrophic disease process. [source] | ||||||||||