Sudden Visual Deterioration as the First Symptom of Chronic Kidney Failure

Purpose

We report here a unique case of a sudden loss of vision as the first symptom of an advanced chronic nephropathy.

Methods and Results

A 25-year-old man was referred to the Department of Ophthalmology with sudden visual deterioration presumptively diagnosed as bilateral retinitis. The patient had never been under any medical care before and had never had any clinical signs of any chronic disease. He underwent an ophthalmic examination with optical coherence tomography (OCT). Based on the clinical features, OCT scans and systemic blood pressure (BP) assessment (225/145 mm Hg), the patient was definitely diagnosed with hypertensive retinopathy and choroidopathy due to hypertensive crisis. After urgent diagnostic procedures, the patient was diagnosed with a chronic kidney disease at stage 5 in the course of chronic glomerulonephritis. Immediately, a renal replacement therapy was started and the patient was qualified for renal transplantation.

Conclusion

Adolescents with an unclear picture of retinal lesions, who have neither a history nor clinical signs of a systemic disease, should undergo careful systemic screening with BP assessment. A sudden deterioration of vision may be the first symptom of a previously undiagnosed severe systemic disease (very rare chronic) that requires immediate treatment.Key Words: Hypertensive crisis, Hypertensive choroidopathy, Hypertensive retinopathy, Chronic renal failure     

Tumour in left atrium diagnosed 6 years after ablation of pulmonary vein ostia and inferior right atrial isthmus: thrombus or myxoma?

We present a case of the left atrial myxoma 6 years after atrial fibrillation ablation. The initial diagnosis of the mass revealed on echocardiography was a thrombus. Failure of anticoagulant treatment and transesophageal echocardiography led to diagnosis of myxoma, confirmed intraoperatively and histologically.     

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type

Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion‐Almeida type (MFDGA). MFDGA‐associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants. These variants are predicted to result in haploinsufficiency by loss‐of‐function of the variant allele. While the contribution of deletions within EFTUD2 to allele loss‐of‐function are self‐evident, the mechanisms by which missense variants are disease‐causing have not been characterized functionally. Combining bioinformatics software prediction, yeast functional growth assays, and a minigene (MG) splicing assay, we have characterized how MFDGA missense variants result in EFTUD2 loss‐of‐function. Only four of 19 assessed missense variants cause EFTUD2 loss‐of‐function through altered protein function when modeled in yeast. Of the remaining 15 missense variants, five altered the normal splicing pattern of EFTUD2 pre‐messenger RNA predominantly through exon skipping or cryptic splice site activation, leading to the introduction of a premature termination codon. Comparison of bioinformatic predictors for each missense variant revealed a disparity amongst different software packages and, in many cases, an inability to correctly predict changes in splicing subsequently determined by MG interrogation. This study highlights the need for laboratory‐based validation of bioinformatic predictions for EFTUD2 missense variants.     

Silymarin from Milk Thistle Fruits Counteracts Selected Pathological Changes in the Lenses of Type 1 Diabetic Rats

Diabetes is a metabolic disease affecting many tissues and organs. The main etiological factor for diabetic complications is hyperglycemia and subsequent pathologies, such as oxidative stress. One of the organs susceptible to the development of diabetic complications is the eye with all of its elements, including the lens. The aim of this study was to evaluate the effect of silymarin, an extract obtained from milk thistle fruit husks, on the oxidative stress markers in the lenses of type 1 diabetic rats. The study was performed on male rats in which type 1 diabetes was induced with 60 mg/kg streptozotocin injection. Diabetic animals were treated via an intragastric tube with silymarin at 50 and 100 mg/kg doses for four weeks. Multiple oxidative stress and polyol pathway-related parameters were measured in the lenses, and auxiliary biochemical tests in the serum were conducted. Diabetes induced severe pathological changes both in the lenses and the serum, and silymarin counteracted several of them. Nevertheless, the qualitative analyses encompassing all tested parameters indicate that silymarin slightly improved the overall state of diabetic animals. Upon the obtained results, it can be concluded that silymarin reveals a faint positive effect on the lenses in type 1 diabetic rats.     

Blood gas analysis of forearm veins--at rest and after exercise of forearm muscles and laser Doppler flowmetry of skin on the back of the palm--use in evaluation of microcirculation in diabetes type 2

The aim of the study was to compare of nondominant forearm microcirculation in adult-type diabetes and healthy subjects with use of venous blood gasometry (vbg) sampled from basilic vein before and after exercise of antebrachial muscles and with use of laser doppler fluxometry (LDF) with optode localized in dorsal palm surface. Examinations were performed in groups of 16 diabetic patients (aged 43.5 +/- 5.7) and 16 healthy subjects (aged 39.3 +/- 7.8). After exercise of antebrachial muscles in diabetic patients in vbg were: pH higher, pO2 and satO2 lower than in healthy subjects, pCO2 and -HCO3 were not different in both group. In LDF in diabetic patients impaired hypraemic reaction, impaired heating to 40 degrees C reaction and hyperaemic reaction in this temperature were found.     

The role of therapeutic use of interleukin-2 in HIV infection

Interleukin-2 (IL-2) is a cytokine produced by lymphocytes T CD4+, T CD8+ and NK cells. IL-2 increases the number of lymphocytes T and prolongs their survival and has extensive immunomodulatory effect. High levels of IL-2 are observed during asymptomatic phase of HIV infection (TH-1 dependent cytokine) and low levels are observed during progression of immunodeficiency. IL-2 inhibits apoptosis of CD4+ T cells, improves NK cells activity, has influence on production of soluble antiviral factor (CAF) which inhibits viral activity etc. That is why IL-2 has been introduced to the treatment of HIV infection along with highly active antiretroviral therapy (HAART). High T CD4+ cells count predicts long survival of HIV infected individual. Phase III clinical trials concerning IL-2 are now performed and the preliminary results are promising. Polish centers also take part in the ESPRIT study. Adverse events of various severity are seen in patients under treatment (anti inflammatory drugs are required). The symptoms usually resolve within a few days after IL-2 therapy is stopped.     

Acid-base equilibrium in cerebrospinal fluid following intracranial surgery]

In 48 patients the acid-base equilibrium in the CSF and blood was determined on the 2nd day after intracranial operation. In the postopertive period various disturbances of this equilibrium were found which were probably various stages of metabolic acidosis compensation in the CSF which was a reflection of metabolic (lactate) acidosis developing primarily in the damaged brain area. On the basis of determinations it was found that changes in the CSF of the type of metabolic acidosis (21 cases) corresponded most frequently to respiratory alkalosis in the blood (11 cases). Changes of the type of respiratory acidosis in the CSF(13 cases) corresponded usually to metabolic alkalosis in the blood (7 cases). The development of metabolic acidosis in patients in severe and moderately severe condition (19 cases) was associated with poor prognosis as to survival since the mortality in this group was 10 (about 53%). The favourable effect of dehydrating treatment may be due also to facilitation of passage of bicarbonates from the blood into the cerebral tissue and CSF since their level is increased in the blood during metabolic alkalosis (during a decrease in the extracellular space) resulting from dehydration.     

Modulation of E rosette forming activity of human lymphocytes by rosette inhibiting factor (RIF) ann rosette restoring factor (RRF).

The mechanism of action of RIF and RRF on spontaneous rosette formation by human T lymphocytes with SRBC was studied on cells isolated from healthy donors and from patients with active pulmonary tuberculosis. E rosette formation by lymphocytes from healthy donor is inhibited in vitro by RIF. The effect of RIF is reversible since the primary activity of lymphocytes can be restored by contact with RRF. On the other hand, E rosette formation by lymphocytes from tuberculous patients by means of RRF can be depressed by RIF to the starting level. It was found that prostaglandin synthetase inhibitors (indomethacin and RO 20-5720) prevent inhibition or restoration of E rosette activity by RIF and RRF, respectively.