The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of neuropathy, -related disease, -ALS, related progressive gait decline and spasticity, and -related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E.

[Role of serum factors in decreasing the reaction of peripheral blood lymphocytes in schizophrenia to PHA stimulation].

The blood serum of schizophrenic patients and three of its studied fractions (gamma-globulins and remaining after elimination of gamma-globulins and ultrafiltrate protein fractions) inhibit the lymphocyte response of normals to PHA stimulation (an increase of the DNA content in cells). An insignificant inhibitor effect in the blood serum of normals was seen only in the protein fraction. The PHA precipitating activity of the blood serum in schizophrenic patients which is mainly connected with its protein fraction is increased by 30%.

[Effect of schizophrenic patients' serum on the physiological state of lymphocytes under in vitro conditions].

The report is concerned with the action of the serum of schizophrenic patients on the physiological state of lymphocytes in normal donors. It was established that during the early stages of incubation the action of the serum in schizophrenic patients evokes the activation of lymphocytes in normal donors, that is seen in changes of the ultrastructure and adhesive properties of these cells. On the late stages of cultivation the serum of patients destroys 13.

[Serum humoral factors--cause of the altered physiologic state of peripheral blood lymphocytes in schizophrenic patients].

Statistically significant correlations were revealed between the following: the percentage content in the lymphocyte cultures of patients suffering from schizophrenia of cells responding to stimulation with phytohemagglutinin (PHA) by DNA synthesis, and the percentage in the white blood cell cultures of healthy donors of lymphocytes failing to respond to the PHA stimulation by the DNA synthesis as a result of cultivation of these cells in a medium containing the blood serum (20%) of schizophrenic patients. Similar correlation was revealed between the percentage content in cultures of the white blood cells of schizophrenic patients of adhesive lymphocytes and the percentage of adhesive lymphocytes in the white blood cell cultures of healthy donors in cultivation of these cells in a medium containing the blood serum (20%) of schizophrenic patients. The data obtained confirmed a supposition that the altered physiological condition of the peripheral blood lymphocytes of patients suffering from schizophrenia was caused by the factors contained in the blood serum of these patients.

[Effect of blood serum from schizophrenic patients and from normal donors on DNA synthesis in lymphocytes].

The number of DNA-synthesizing lymphocytes in the phytohemagglutinin (PHA)-stimulated cultures of the peripheral blood of schizophrenic patients was determined. Under the mentioned conditions the number of DNA-synthesizing lymphocytes of the schizophrenic patients was 18% less than in the cultures of healthy donors. When the PHA-treated lymphocytes of normal donors were incubated with the serum of schizophrenic patients the number of lymphocytes capable of synthesizing DNA in the presence of PHA fell by 21%.