Optimizing Sequencing Resources in Genotyped Livestock Populations Using Linear Programming.

Low-cost genome-wide single-nucleotide polymorphisms (SNPs) are routinely used in animal breeding programs. Compared to SNP arrays, the use of whole-genome sequence data generated by the next-generation sequencing technologies (NGS) has great potential in livestock populations. However, sequencing a large number of animals to exploit the full potential of whole-genome sequence data is not feasible.

Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital.

Background: To ascertain the frequency, clinical spectrum and outcome of congenital myasthenic syndrome (CMS) patients who reported to the neuromuscular division of our quaternary medical center during the past ten years.

Methods: We performed a retrospective analysis of all the CMS patients who reported to us during the study period.

Results: Twenty-one patients of CMS attended our quaternary hospital over the past ten years.

Functional analysis of HOXA10 and HOXB4 in human medulloblastoma cell lines.

Medulloblastoma (MB) is a malignant childhood brain tumor which at molecular level is classified into at least four major subtypes: WNT, SHH, group C and group D differing in response to treatment. Previous studies have associated changes in expression levels and activation of certain HOX genes with MB development. In the present study, we investigate the role of HOX genes in two attributes acquired by tumor cells: migration and proliferation potential, as well as, in vivo tumorigenic potential.

In vivo dosimetry with optically stimulated luminescent dosimeters for conformal and intensity-modulated radiation therapy: A 2-year multicenter cohort study.

Purpose: Optically stimulated luminescent dosimeters (OSLDs) are utilized for in vivo dosimetry (IVD) of modern radiation therapy techniques such as intensity modulated radiation therapy (IMRT) and volumetric modulated arc therapy (VMAT). Dosimetric precision achieved with conventional techniques may not be attainable. In this work, we measured accuracy and precision for a large sample of clinical OSLD-based IVD measurements.

Differential gene expression underlying ovarian phenotype determination in honey bee, Apis mellifera L., caste development.

Adult honey bee queens and workers drastically differ in ovary size. This adult ovary phenotype difference becomes established during the final larval instar, when massive programmed cell death leads to the degeneration of 95-99% of the ovariole anlagen in workers. The higher juvenile hormone (JH) levels in queen larvae protect the ovaries against such degeneration.

Significant differences in integration sites of Moloney murine leukemia virus/Moloney murine sarcoma virus retroviral vector carrying recombinant coagulation factor IX in two human cell lines.

Ligation-mediated-PCR was performed followed by the mapping of 177 and 150 integration sites from HepG2 and Hek293 transduced with chimera vector carrying recombinant human Factor IX (rhFIX) cDNA, respectively. The sequences were analyzed for chromosome preference, CpG, transcription start site (TSS), repetitive elements, fragile sites and target genes. In HepG2, rhFIX was had an increased preference for chromosomes 6 and 17; the median distance to the nearest CpG islands was 15,240 base pairs and 37 % of the integrations occurred in RefSeq genes.

Efficient recovery of undifferentiated human embryonic stem cell cryopreserved with hydroxyethyl starch, dimethyl sulphoxide and serum replacement.

Background: The therapeutic use of human embryonic stem cells (hESCs) is dependent on an efficient cryopreservation protocol for long-term storage. The aim of this study was to determine whether the combination of three cryoprotecting reagents using two freezing systems might improve hESC recovery rates with maintenance of hESC pluripotency properties for potential cell therapy application.

Methods: Recovery rates of hESC colonies which were frozen in three cryoprotective solutions: Me2SO/HES/SR medium, Defined-medium® and Me2SO/SFB in medium solution were evaluated in ultra-slow programmable freezing system (USPF) and a slow-rate freezing system (SRF).

Multipoint incremental motor unit number estimation versus amyotrophic lateral sclerosis functional rating scale and the medical research council sum score as an outcome measure in amyotrophic lateral sclerosis.

Introduction: Monitoring the disease progression in amyotrophic lateral sclerosis (ALS) is a challenge due to different rates of progression between patients. Besides clinical methods to monitor disease progression, such as the ALS functional rating scale (ALSFRS) and the medical research council (MRC) sum score, quantitative methods like motor unit number estimation (MUNE) are of interest.

Objective: The objective of the present study is to evaluate the rate of progression in ALS using multipoint incremental MUNE and to compare MUNE, ALSFRS and MRC sum score at baseline and at 6 months for progression of the disease.

Identifying large sets of unrelated individuals and unrelated markers.

Background: Genetic Analyses in large sample populations are important for a better understanding of the variation between populations, for designing conservation programs, for detecting rare mutations which may be risk factors for a variety of diseases, among other reasons. However these analyses frequently assume that the participating individuals or animals are mutually unrelated which may not be the case in large samples, leading to erroneous conclusions. In order to retain as much data as possible while minimizing the risk of false positives it is useful to identify a large subset of relatively unrelated individuals in the population.

Congenital myasthenic syndromes: Natural history and long-term prognosis.

Introduction: Congenital myasthenia syndrome (CMS) is a rare, heterogeneous group of genetically determined, disorder of neuromuscular transmission. They have a varied presentation and progression and very few studies have addressed the natural history. Aim of the present study is to describe the clinical profile and natural history of patients with CMS.

Hypertrophic pachymeningitis in a patient with Takayasu arteritis: One more association?

Hypertrophic pachymeningitis (HP) is a rare chronic inflammatory disease of the dura mater, described in association with various infections, systemic vasculitides such as Wegener's granulomatosis and giant cell arteritis. However, HP in association with Takayasu arteritis (TA) has not been described. We report a young woman who presented with headache, seizures, and right third and fourth cranial neuropathy.

Association between Knops blood group polymorphisms and susceptibility to malaria in an endemic area of the Brazilian Amazon.

Complement receptor 1 (CR1) gene polymorphisms that are associated with Knops blood group antigens may influence the binding of Plasmodium parasites to erythrocytes, thereby affecting susceptibility to malaria. The aim of this study was to evaluate the genotype and allele and haplotype frequencies of single-nucleotide polymorphisms (SNPs) of Knops blood group antigens and examine their association with susceptibility to malaria in an endemic area of Brazil. One hundred and twenty-six individuals from the Brazilian Amazon were studied.

Vascular parkinsonism: what makes it different?

Vascular parkinsonism (VP) accounts for 2.5-5% of all cases of parkinsonism in various population based and clinical cohort studies. VP develops as a result of ischaemic cerebrovascular disease, so aetiologically it is classified as secondary parkinsonism.

Kinaesthetic ipsilateral and crossed extensor plantar response: A new way to elicit upgoing toe sign (Babinski response)?

We describe a phenomenon of "kinaesthetic extensor plantar response" in advanced pyramidal dysfunction, an interesting observation noted in a patient with dorsal myelopathy. A 44-year-old woman presented with one-year history of gradually progressive weakness and stiffness of both lower limbs along with urge incontinence of urine. Examination showed spontaneous elicitation of extensor plantar response while assessing the tone by rolling method as well as on noxious stimulation of the thigh.

Clinical, electrophysiologic, and histopathologic profile, and outcome in idiopathic inflammatory myositis: An analysis of 68 cases.

Objectives: To study the electroclinical and histopathologic profile of idiopathic inflammatory myositis (IIM) with reference to prognosis and survival rate.

Materials And Methods: Diagnosis of IIM was based on the Bohan and Peter criteria. Patients who improved and those whose condition worsened or who expired due to IIM per se at last follow-up were classified to have favorable and poor outcomes, respectively.

Acute endovascular recanalization therapy in wake-up stroke.

Background And Purpose: Up to 15-25% of patients with ischemic stroke wake up with their deficits. Because of the uncertainty about the time of onset, these patients are generally not offered thrombolytic therapy. Some of these wake-up stroke patients may be eligible for acute endovascular stroke therapy based on hyperacute CT or MR imaging independent of the time window.

Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: a case report and review of literature.

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth. Some have characteristic clinical or electrodiagnostic features but in many cases determination of the specific form requires genetic studies or specialized morphological and electrophysiological studies on muscle tissue.

Factors associated with misdiagnosis of acute stroke in young adults.

Misdiagnosis or delayed diagnosis of acute ischemic stroke can result in neurologic worsening or a missed opportunity for thrombolysis. Because stroke in young adults is less common than stroke in the elderly, we sought to determine clinical characteristics associated with misdiagnosis of stroke in young adults. Patients from the prospectively maintained Young Stroke Registry in our comprehensive stroke center were reviewed.

Anomalous origin of the middle meningeal artery from the posterior inferior cerebellar artery.

Various anastomosis and aberrant origins of the middle meningeal artery (MMA) have been documented in literature. However, there has been no report of its origin from the posterior inferior cerebellar artery (PICA) or its branches. In this report, we discuss an anomalous origin of the MMA from the PICA.

Electrodiagnostic and clinical aspects of Guillain-Barré syndrome: an analysis of 142 cases.

Background: The incidence of Guillain-Barré syndrome (GBS) and its subtypes varies throughout the world.

Objective And Methods: We present a retrospective analysis of 142 GBS cases, treated at our center, aimed at classifying GBS electrophysiologically, to study the sequential electrophysiological changes in cases with acute inflammatory demyelinating polyradiculoneuropathy (AIDP), and to look for any clinical and cerebrospinal fluid parameters that can also help in distinguishing the subtypes.

Results: One hundred twenty-one (85.

Factor v leiden mutation in reocclusion after intra-arterial thrombolysis.

Background And Purpose: Reocclusion of intracranial arteries after successful recanalization is associated with poor clinical outcome. The role of Factor V Leiden mutation in intracranial arterial thrombosis/rethrombosis is unclear.

Summary Of Report: We report the case of a patient who developed recurrent reocclusions of the middle cerebral artery after intra-arterial thrombolysis for acute ischemic stroke.

Muscle channelopathies and electrophysiological approach.

Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and nondystrophic myotonias are disorders of skeletal muscle excitability caused by mutations in genes coding for voltage-gated ion channels.

Guillain-Barre syndrome in children and adolescents--a retrospective analysis.

In this study, 55 cases of Guillain-Barre syndrome (GBS) in children and adolescents of 2-18 years of age were analysed retrospectively to study the clinical profile and to evaluate the prognostic value of reduced compound muscle action potential (CMAP) on the need for ventilation and functional outcome. Of the 28 boys and 27 girls 87.3% were bed-bound at peak deficit.