Early prediction of urinary tract infection with urinary neutrophil gelatinase associated lipocalin

Neutrophil gelatinase associated lipocalin (NGAL) is a protein identified in human neutrophil granules. The aim of the study was to assess whether urine level of NGAL (uNGAL) could represent a novel, reliable marker of urinary tract infection (UTI) and to determine the optimal cutoff level for uNGAL to predict UTI in children. Sixty patients with symptomatic UTI and 29 healthy controls were enrolled the study. Urine NGAL was measured by enzyme-linked immunosorbent assay. A dimercaptosuccinic acid (DMSA) radionuclide scan was performed within 7 days in the patients with UTI in an attempt to distinguish pyelonephritis from cystitis. Mean uNGAL level was significantly higher in the UTI group than in the controls (91.02 ng/ml vs 14.29 ng/ml, p = 0.0001) and using a cutoff 20 ng/ml for uNGAL for diagnosis of UTI, sensitivity, and specificity were 97% and 76%, respectively [area under the curve (AUC): 0.979]. Mean uNGAL/creatinine ratio (uNGAL/Cr) was also significantly higher in the UTI group [201.81 ng/mg creatinine (Cr) vs 18.08 ng/mg Cr; p = 0.0001], and using a cutoff 30 ng/mg Cr for uNGAL/Cr for diagnosis of UTI, sensitivity and specificity were 98% and 76%, respectively (AUC: 0.992). In conclusion, both uNGAL and uNGAL/Cr can be used as a novel, sensitive marker for early prediction of UTI in the absence of acute kidney injury and chronic kidney disease, and the optimal cutoff value for prediction of UTI is lower than the values determined for acute kidney injury. Further investigations with larger patient groups are required to confirm our results.     

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.     

Sensorineural hearing loss in neurobrucellosis

Neurobrucellosis (NB) is a rare clinical presentation of brucellosis. This form is hard to diagnose because of a lack of definite diagnostic criteria, and its treatment is also hard. The clinical spectrum may cover a span between non-specific neurological symptoms to a severe meningoencephalitis. We report 3 patients with NB, whose main complaint was sensorineural hearing loss (SNHL) who were followed up at our hospital for 3 years. We diagnosed NB by positive CSF cultures in 2 patients and by a positive brucella IgG agglutination titer in blood and CSF in the third. Sensorineural hearing loss is a rare complication of NB, which has not attracted enough attention among known manifestations. Neurologists and otologists should be aware of this symptom as a probable clinical presentation of brucellosis.     

Mycophenolate mofetil treatment of crescentic Henoch-Schönlein nephritis with IgA depositions

Mycophenolate mofetil (MMF) is considered to be a promising therapeutic agent in primary glomerulonephritis but there are no data on the use of MMF in Henoch-Sch?nlein nephritis (HSN). Herein we report the first adult crescentic HSN patient in whom long-term complete remission was achieved after MMF therapy.     

The clinical, electrophysiologic, and surgical characteristics of peripheral nerve injuries caused by gunshot wounds in adults: a 40-year experience

BACKGROUND: There are few large-volume studies on the repair of peripheral nerve lesions caused by gunshot wounds. In this study, the results of peripheral nerve repair are analyzed, and the factors influencing the outcome are investigated. METHODS: During a 40-year period, 2210 peripheral nerve lesions in 2106 patients who sustained gunshot injury were treated surgically in the Department of Neurosurgery. One thousand thirty-four patients had shrapnel injury, and 1072 patients had missile injury. Twelve peripheral nerves were included in this study, and all of them were repaired by direct suture, using nerve graft, or neurolysis. All patients underwent neurologic and electrophysiologic evaluations in the preoperative period and postoperatively at the end of the follow-up period. The mean time of follow-up was 2.6 years. Final outcome was based on the motor, sensory, and electrophysiologic recoveries, and a patient judgment scale. RESULTS: Using the muscle grading scale, sensory grading scale, EMNG, and patient judgments, the maximal recovery was achieved in the subscapular nerve, but there were only 4 subscapular nerve lesions, which is not sufficient for a statistically significant outcome. Furthermore, the tibial, median, and femoral nerve lesions showed the best recovery rate, whereas the peroneal nerve, ulnar nerve, and brachial plexus lesions had the worst. CONCLUSION: Type of the peripheral nerve, injury (repair) level, associated injuries, electrophysiologic findings, operation time, intraoperative findings, surgical techniques, and postoperative physical rehabilitation are the prognostic factors for peripheral nerve lesions due to gunshot wounds.     

Four cases of neonatal non-ketotic hyperglycinaemia

Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage system. Affected neonates present with lethargy, feeding difficulty, hypotonia, apnoea, poorly controlled convulsions and coma. Four cases are reported, three of whom died in the neonatal period. The fourth case was treated with dextromethorphan and sodium benzoate. He survived with neurodevelopmental delay but is now almost seizure-free.     

Demonstration of false inclusion risks of duo parentage analyses in the Turkish population in light of parentage acceptance criteria

In routine parentage tests, trio analyses (father-mother-child) are preferred. Under certain circumstances, laboratories may have to perform duo analysis (without mother/father). However, duo analyses increase the risk of false inclusions. This paper aimed to evaluate the false inclusion risks of duo analyses in the Turkish population from the point of forensic applications and the Turkish judicial system. Children from 400 previously analysed cases were compared separately with fathers and mothers of other cases by using a computer programme. From the total 345,006 comparisons, in 16 comparisons, no Short Tandem Repeat (STR) mismatch was observed at 15 STR loci between the child and an unrelated parent. In other words, duo tests provided a coincidental second mother or father to 16 children. In almost all of these cases, the probabilities of paternity estimation values are greater than Turkish Judicial System’s parentage acceptance limit, which is 99.73%. According to results, we suggested that trio cases should be performed as much as possible and the parentage acceptance limit, which is 99.73%, should be re-evaluated by a law maker’s commission to prevent false inclusion parentage cases in Turkey.