Recurrent ocular toxoplasmosis infection in a patient with a selective deficiency of NK T-cells and cytotoxic СD8+ T-cells associated with a genetic folate cycle deficiency

Abstract

This paper reports a case of recurrent toxoplasmic chorioretinitis in a patient with cellular immunodeficiency. A 37-year-old male presented to an ophthalmologist with complaints of reduced visual acuity and discomfort in his left eye. He had a history of at least two episodes of acute posterior uveitis without identifying the cause of inflammation. An ophthalmoscopic evaluation revealed a scar in the right retina and signs of acute vitritis and chorioretintis surrounding a scar in the left retina. Paired serology confirmed a diagnosis of toxoplasmosis. A deficiency of NK T-cells and cytotoxic СD8+ T-cells was noted, but there was no evidence of secondary immunosuppression. The Primary Immunodeficiency (PID) panel providing sequencing of 208 genes did not find a disease. A test for genetic folate cycle deficiency was conducted due to persistent hyperhomocysteinemia. The genetic testing identified two pathogenic polymorphisms in the genes coding for folic acid cycle enzymes (heterozygous MTHFR A1298C and homozygous MTRR A66G), which was believed to be associated with a cellular immunity, taking into account the data on immunosuppression and opportunistic infections in the presence of a genetic folate cycle deficiency.The following treatment was administered: spiramycin, 3.0 mln units orally daily for 14 days, to inhibit toxoplasma; recombinant human alpha2 interferon (3.0 mln units intramuscularly every other day for a month) and oxodihydroacridinylacetate sodium 2.0 mln units intramuscularly every other day for a month, with switching between this agent and interferon, to compensate for a deficiency of NK T-cells and СD8+ T-cells; and daily peribulbar injection of betamethasone 4 mg/mL for 3 days. The first signs of improved visual acuity were seen at day 8, and a complete restoration of vision in the left eye was achieved by the end of one month of combination therapy. In addition, the patient received three one-month courses of alpha2 interferon for compensation of cellular immunodeficiency over two years which prevented a recurrence of toxoplasmosis.

Pelvic floor muscle exercises plus biofeedback versus pelvic floor muscle exercises for patients with stress urinary incontinence: A systematic review and meta-analysis of randomized controlled trials

“…Non-significant superiority of BF and PFME over the PFME group alone on the quality of life of SUI patients could be explained by the concept of quality of life itself, which is variable and depends on multiple variables ranging from physical, psychological and even social domains, which are multifactorial and not relay of PFM strength, which is the primary outcome from adding BF to PFME, which is not necessary to extend its effect to other aspects of life as patient satisfaction, social interaction and quality of life improvement [59][60][61]. Also, the effect of SUI on the patient's quality of life is variable across patients depending on the severity of the disease, other associated diseases and even other personal expectations from treatment [62][63][64][65][66]. Some patients consider the reduction of the frequency and amount of leakage as a primary goal for a better quality of life, while others need additive assistance to enhance their quality of life.…”