Search

Background The incidence of orthopedic disorders amongst patients with Prader–Willi Syndrome (PWS) is high when compared to the general pediatric population. The purpose of this retrospective study was to define the most commonly performed orthopedic procedures in pediatric patients with PWS and to characterize the peri-operative outcomes of these patients. Methods The Kids Inpatient Database (KID) was queried to collect data and identify all pediatric patients with PWS who underwent orthopedic procedures from 2001 to 2012. A total of 3684 patients with PWS were identified, 334 of who underwent an orthopedic procedure. Population demographics, comorbidities, and specific procedures undergone were defined. The incidences of postoperative complications and length of associated hospital stay were additionally evaluated. Results Mean age of patients in this sample was 10.33 years (SD 4.5). The most common comorbidities included obesity (18.1%), chronic pulmonary disease (14.1%), hypothyroidism (5.1%), hypertension (5.1%), and uncomplicated diabetes (4%). Common procedures were spinal fusion (165/334, 49%) and lower extremity procedures (50/334, 15%). Complications included acute blood loss anemia, device related complications, pneumonia, sepsis, and urinary tract infections. The overall complication rate was 35.6%. Average hospital lengths of stay for patients undergoing spinal fusion was 6.68 days (SD 4.13), lower extremity orthopedic procedure was 5.65 days (SD 7.4), and all other orthopedic procedures was 7.74 days (SD 16.3). Conclusions Orthopedic disorders are common in patients with PWS. Consequently, spinal fusions and lower extremity procedures are commonly performed in this patient population. Associated comorbid conditions may negatively impact surgical outcomes in these patients. This information should prove useful in the peri-operative management of patients with PWS undergoing orthopedic surgery and for shared decision making with families.

Background Solar retinopathy is a disease that causes photochemical toxicity in the retinal fovea tissues, leading to an acute decrease of vision. Case presentation This case report is an interventional case of an asymptomatic 17-year-old Caucasian female with a history of suddenly decreased vision due to solar retinopathy. The patient was managed with a custom-made needle injection of triamcinolone acetonide in the suprachoroidal space. Four months post suprachoroidal injection showed an anatomical and functional improvement in the ellipsoid zone layer through optical coherence tomography signal reappearance. In addition, the best-corrected visual acuity had improved from 0.1 to 1.0 on the Snellen chart with the disappearance of the scotoma. However, there was a mild increase in intraocular pressure after this procedure, controlled with topical hypertensive eye drops. Conclusion Suprachoroidal triamcinolone acetonide injection using a custom-made needle showed both functional and anatomical improvement of macular changes post-solar retinopathy, with acceptable safety outcomes in a young female.

Purpose To report optical coherence tomography angiography findings obtained in two patients with solar retinopathy. Methods Two case reports. Results Two patients presented with blurry vision after sun gazing during the recent solar eclipse and were found to have characteristic foveal lesions on examination and optical coherence tomography consistent with solar retinopathy. Optical coherence tomography angiography showed a focal area of nonperfusion of the choriocapillaris in the affected eyes. Conclusion Changes to the choriocapillaris layer on optical coherence tomography angiography in two patients with solar retinopathy suggest that damage is not limited to the retina.

The results of the analysis of case histories of 100 deceased patients (55 women and 45 men), whose cause of death was the syndrome of multiple organ failure due to COVID-19, are presented. The case histories of patients who had no previous renal dysfunction were selected for the analysis. The average age of the patients was 76 years. At the terminal stage of the disease, microhematuria was detected in 27 patients, hypercreatininemia was noted in 17 patients, while the creatinine content in the blood did not exceed 437 mol / L in any of 100 patients. Oliguria was observed in 9 patients, polyuria in 43 patients. A possible cause of kidney damage is the damaging effect of SARS-CoV-2 on the proximal convoluted tubules of the nephron. At the same time, in no patient with a severe course of COVID-19, kidney damage did not determine the severity of the condition and was not the cause of death.

Background: Canada has maintained a low incidence of toxigenic diphtheria since the 1990s, supported by continued commitment to publicly funded vaccination programs. Objective: To determine whether hospitalization data, complemented with notifiable disease data, can describe the toxigenic respiratory and cutaneous diphtheria burden in Canada, and to assess if Canada is meeting its diphtheria vaccine–preventable disease-reduction target of zero annual cases of locally transmitted respiratory diphtheria. Methods: Diphtheria-related hospital discharge data from 2006 to 2017 were extracted from the Discharge Abstract Database (DAD), and diphtheria case counts for the same period were retrieved from the Canadian Notifiable Disease Surveillance System (CNDSS), for descriptive analyses. As data from the province of Québec are not included in the DAD, CNDSS cases from Québec were excluded. Results: A total of 233 diphtheria-related hospitalizations were recorded in the DAD. Of these, diphtheria was the most responsible diagnosis in 23. Half the patients were male (52%), and 57% were 60 years and older. Central region (Ontario) accounted for the most discharge records (61%), followed by Prairie region (Alberta, Manitoba and Saskatchewan; 23%). Cutaneous diphtheria accounted for 43% of records, and respiratory diphtheria accounted for 3%, with the remainder being other diphtheria complications or site unspecified. Two records with diphtheria as the most responsible diagnosis resulted in inpatient deaths. Eighteen cases of diphtheria were reported through CNDSS. Cases occurred in all age groups, with the largest proportions among those aged 20 to 59 years (39%) and those aged 19 years and younger (33%). Cases were only reported in the Prairie (89%) and West Coast (British Columbia; 11%) regions. Conclusion: Hospital administrative data are consistent with the low incidence of diphtheria reported in CNDSS, and a low burden of respiratory diphtheria in Canada. Although Canada appears to be on track to meet its disease-reduction target, information on endemic transmission is not available.

Crb2 is a cell polarity-related type I transmembrane protein expressed in the apical membrane of podocytes. Knockdown of crb2 causes glomerular permeability defects in zebrafish, and its complete knockout causes embryonic lethality in mice. There are also reports of Crb2 mutations in patients with steroid-resistant nephrotic syndrome, although the precise mechanism is unclear. The present study demonstrated that podocyte-specific Crb2 knockout mice develop massive albuminuria and microhematuria 2-month after birth and focal segmental glomerulosclerosis and tubulointerstitial fibrosis with hemosiderin-laden macrophages at 6-month of age. Transmission and scanning electron microscopic studies demonstrated injury and foot process effacement of podocytes in 6-month aged podocyte-specific Crb2 knockout mice. The number of glomerular Wt1-positive cells and the expressions of Nphs2, Podxl, and Nphs1 were reduced in podocyte-specific Crb2 knockout mice compared to negative control mice. Human podocytes lacking CRB2 had significantly decreased F-actin positive area and were more susceptible to apoptosis than their wild-type counterparts. Overall, this study's results suggest that the specific deprivation of Crb2 in podocytes induces altered actin cytoskeleton reorganization associated with dysfunction and accelerated apoptosis of podocytes that ultimately cause focal segmental glomerulosclerosis.

Гематурия — это наличие пяти или более эритроцитов в трех последовательных анализах мочи, полученных с интервалом в одну неделю. На уровне первичной медицинской помощи врач должен уметь распо­знать и подтвердить наличие гематурии, предположить ее возможные причины, провести отбор пациентов, которые потенциально могут иметь тяжелое заболевание мочевой системы. Алгоритм оказания первичной медицинской помощи при гематурии у детей зависит от ее клинического варианта: макрогематурия, симптоматическая микрогематурия, асимптоматическая микрогематурия с протеинурией, асимптоматическая изолированная микрогематурия. Детям с макрогематурией показано следующее обследование: общий анализ мочи, общий анализ крови, креатинин сыворотки, соотношение кальций/креатинин в разовой моче, УЗИ почек и мочевого пузыря. Если в результате уточнения жалоб, анамнеза, объективного и дополнительного обследования причина макрогематурии не установлена, ребенка следует направить к детскому нефрологу. Оценка детей с симптоматической микрогематурией направлена на выявление общих (лихорадка, недомогание, боль в животе и др.), неспецифических (сыпь, артрит, желтуха, респираторные, желудочно-кишечные симптомы и др.) и специфических для мочевой системы (дизурия, поллакиурия, недержание мочи, энурез, отеки, артериальная гипертензия) симптомов. Наличие гематурии в сочетании с протеинурией у детей чаще всего предполагает гломерулярное происхождение гематурии. Бессимптомные пациенты, у которых сохраняются гематурия и протеинурия в течение 2–3 недель, должны быть направлены к детскому нефрологу для дальнейшего обследования. Бессимптомная изолированная микрогематурия является наиболее распространенным вариантом гематурии у детей, обычно кратковременным и, как правило, не связанным с тяжелым почечным заболеванием. Наиболее распространенными причинами персистирующей более шести месяцев асимптоматической микрогематурии являются IgA-нефропатия, болезнь тонких базальных мембран, менее частыми — наследственный нефрит (синдром Альпорта), гиперкальциурия, инфекция мочевых путей. На этапе дообследования и дальнейшего наблюдения детей с асимптоматической изолированной микрогематурией оптимальным лекарственным средством является фитониринговый препарат Канефрон® Н.

Objective To compare the 2012 American Urological Association (AUA) and 2020 AUA/Society of Urodynamics, Female Pelvic Medicine & Urogenital Reconstruction (SUFU) microscopic hematuria (MH) guidelines as applied in 1,018 patients with MH, to confirm of risk groups and to investigate the natural history of patients with MH. Materials and Methods Patients who had undergone a complete urological evaluation for MH according to the 2012 AUA MH guidelines were identified retrospectively. All the patients were then classified into low-, intermediate-, or high-risk for urinary tract malignancy according to the updated 2020 AUA/SUFU MH guidelines, for a second evaluation. The results of the first and second evaluations using the previous 2012 AUA and updated 2020 AUA/SUFU MH guidelines, respectively, were then compared. Results A total of 1018 patients with MH were identified. The urinary tract malignancy rate was 3.3% (34 of the 1,018 patients). According to the 2020 AUA/SUFU MH guidelines, there were 218 patients (21.4%) in the low-risk group, 447 patients (43.9%) in the intermediate-risk group, and 353 patients (34.6%) in the high-risk group. All the 34 patients with malignancy were from the intermediate- or high-risk group who require further urological evaluation. There was no patient with newly developed urinary tract malignancy at the median follow-up time of 28 months (12-58). Conclusion The use of the updated 2020 AUA/SUFU MH guidelines may reduce the number of diagnostic procedures without compromising the diagnosis of life-threatening malignant lesions.

Cellular crescents are defined as two or more layers of proliferating cells in Bowman's space and are a hallmark of inflammatory active glomerulonephritis and a histologic marker of severe glomerular injury. In general, the percentage of glomeruli that exhibit crescents correlates with the severity of kidney failure and other clinical manifestations of nephritic syndrome. In general, a predominance of active crescents is associated with rapidly progressive glomerulonephritis and a poor outcome. The duration and potential reversibility of the underlying disease correspond with the relative predominance of cellular or fibrous components in the crescents, the initial location of the immunologic insult inside the glomerulus, and the sort of involved cells and inflammatory mediators. However, the presence of active crescents may not have the same degree of significance in the different types of glomerulopathies. The pathophysiology of parietal cell proliferation may have dissimilar origins, underscoring the fact that the resultant crescents are a non-specific morphological pattern of glomerular injury with different implications in clinical prognosis in the scope of glomerular diseases.

The consistently high frequency of pathology of urinary system in children dictates the need to find new methods for the treatment and prevention of pyelonephritis.Goal. To study clinical and laboratory indicators of health status in children with chronic pyelonephritis living in the industrial city of Tomsk and evaluate the effectiveness of various rehabilitation treatment regimens.Material and Methods. The kidney and urology examinations were performed in 58 children with a diagnosis of chronic pyelonephritis aged 7 to 12 years. Two treatment schemes including administration of mineral water and physiotherapy were used.Results and Discussion. The following symptoms were detected before treatment: oxaluria in 22.41% of children, microhematuria in 17.24% of children, significant increase in serum and morning urine nitrate/nitrite levels, and microalbuminuria suggesting the instability of cell membranes and inflammatory process in renal tissue.Conclusion. The administration of low-mineralized magnesium-sodium chloride-sulfate water in combination with physical therapy, manual massage, sapropel applications, interference therapy, and enteric oxygen therapy lead to normalization of clinical and laboratory health status indicators in the main group of patients.

Background Thrombotic microangiopathy (TMA)-mediated acute kidney injury (AKI) following massive haemorrhage is a rare but severe complication of the post-partum period. It is associated with a poor renal prognosis and a high risk of end-stage kidney disease. Complement activation may occur in this picture. However, whether complement activation, and thus complement blockade, may be critically relevant in this setting is unknown. Case presentation A 50 year-old woman presented with massive delayed post-partum haemorrhage (PPH). Despite bleeding control and normalization of coagulation parameters, she rapidly developed AKI stage 3 associated with dysmorphic microhematuria and proteinuria up to 2 g/day with the need of renal replacement therapy. Blood tests showed signs of TMA associated with markedly increased sC5b-9 and factor Bb plasma levels, respectively markers of terminal and alternative complement pathway over-activation. This clinical picture prompted us to initiate anti-C5 therapy. sC5b-9 normalized within 12 h after the first dose of eculizumab, factor Bb and C3 after seven days, platelet count after nine days and haptoglobin after 3 weeks. The clinical picture improved rapidly with blood pressure control within 48 h. Diuresis resumed after three days, kidney function rapidly improved and haemodialysis could be discontinued after the sixth and last dose. Serum creatinine returned to normal two years after presentation. Conclusions We suggest that massive PPH induced major activation of complement pathways, which ultimately lead to TMA-induced AKI. Various causes, such as oocyte-donation, the potential retention of placental material and the use of tranexamic acid may have contributed to complement activation due to PPH. The prompt administration of anti-C5 therapy may have rapidly restored kidney microcirculation patency, thus reversing signs of TMA and AKI. We propose that complement activation may represent a major pathophysiological player of this complication and may provide a novel therapeutic avenue to improve renal prognosis in TMA-induced AKI following massive PPH.

Corynebacterium (C.) diphtheriae is one of the two etiological pathogens for human diphtheria with significant morbidity and mortality. Recently, members of its biovar Belfanti have been described as two novel species, C. belfantii and C. rouxii. The most important virulence factor and also the premise to cause diphtheria is the isolate’s capacity to encode and express the diphtheria toxin (DT). In contrast to C. ulcerans, which represents a potentially zoonotic pathogen, C. diphtheriae (incl. the novel deduced species) has almost exclusively been found to comprise a human pathogen. We here report three rare cases of C. rouxii isolation from dogs suffering from disseminated poly-bacterial exsudative to purulent dermatitis and a traumatic labial defect, respectively. The isolates were identified as C. diphtheriae based on commercial biochemistry and matrix-assisted laser desorption/ionisation–time of flight mass spectrometry (MALDI-TOF MS) analysis. However, recently described specific spectral peaks were highly similar to spectra of C. rouxii, which was confirmed by whole genome sequencing. Further investigations of the dog isolates for the presence of DT by tox gene qPCR revealed negative results. The findings from this study point out that skin infections in companion animals can be colonized by uncommon and so believed human specific pathogens, thereby resembling the clinical signs of cutaneous diphtheria.

Approximately 85% of kidney tumors are renal cell carcinoma (RCC). RCC commonly metastasizes to the lung, bone, and lymph nodes; however, gastric metastasis is exceedingly rare. We present an 86-year-old woman with left-sided RCC with known metastatic disease to the lungs, lymph nodes, and bone, who presented with acute blood loss anemia. After hemodynamic stabilization, esophagogastroduodenoscopy revealed a large infiltrative, polypoid, and ulcerated polyp in the gastric body. After complete polypectomy, histological examination demonstrated gastric mucosa ulcerated by clear-cell carcinoma, compatible with metastatic RCC. Our patient was successfully treated with palliative radiation to the gastric body.

Diphtheria is a re-emerging disease in resource-rich settings. We here report three cases of cutaneous diphtheria diagnosed and managed in our infectious disease department and discuss the determinants of its re-emergence. Migration, travel and vaccine scepticism are key factors not only for diphtheria re-emergence, but for the future of most preventable diseases.

A fundamental property of mammalian hearing is the conversion of sound pressure into a frequency-specific place of maximum vibration along the cochlear length, thereby creating a tonotopic map. The tonotopic map makes possible systematic frequency tuning across auditory-nerve fibers, which enables the brain to use pitch to separate sounds from different environmental sources and process the speech and music that connects us to people and the world. Sometimes a tone has a different pitch in the left and right ears, a perceptual anomaly known as diplacusis. Diplacusis has been attributed to a change in the cochlear frequency-place map, but the hypothesized abnormal cochlear map has never been demonstrated. Here we assess cochlear frequency-place maps in guinea-pig ears with experimentally-induced endolymphatic hydrops, a hallmark of Ménière’s disease. Our findings are consistent with the hypothesis that diplacusis is due to an altered cochlear map. Map changes can lead to altered pitch, but the size of the pitch change is also affected by neural synchrony. Our data show that the cochlear frequency-place map is not fixed but can be altered by endolymphatic hydrops. Map changes should be considered in assessing hearing pathologies and treatments.

Microhematuria is a prevalent condition and the American Urological Association has developed a new risk-stratified approach for the evaluation of patients with microhematuria. Our objective was to provide the first evaluation of this important guideline.This multinational cohort study combines contemporary patients from 5 clinical trials and 2 prospective registries who underwent urological evaluation for hematuria. Patients were stratified into American Urological Association risk strata (low, intermediate or high risk) based on sex, age, degree of hematuria, and smoking history. The primary end point was the incidence of bladder cancer within each risk stratum.A total of 15,779 patients were included in the analysis. Overall, 727 patients (4.6%) were classified as low risk, 1,863 patients (11.8%) were classified as intermediate risk, and 13,189 patients (83.6%) were classified as high risk. The predominance of high risk patients was consistent across all cohorts. A total of 857 bladder cancers were diagnosed with a bladder cancer incidence of 5.4%. Bladder cancer was more prevalent in men, smokers, older patients and patients with gross hematuria. The cancer incidence for low, intermediate and high risk groups was 0.4% (3 patients), 1.0% (18 patients) and 6.3% (836 patients), respectively.The new risk stratification system separates hematuria patients into clinically meaningful categories with differing likelihoods of bladder cancer that would justify evaluating the low, intermediate and high risk groups with incremental intensity. Furthermore, it provides the relative incidence of bladder cancer in each risk group which should facilitate patient counseling regarding the risks and benefits of evaluation for bladder cancer.

Objective To calculate the prevalence of renal cell carcinoma (RCC), upper urinary tract urothelial carcinoma (UT-UC), and lower urinary tract urothelial carcinoma (LT-UC) in patients with gross asymptomatic microhematuria (AMH) and symptomatic microhematuria (SMH). Patients and Methods This study was a population-based retrospective descriptive study. The study was approved by both the Mayo Clinic Institutional Review Board and the Olmsted Medical Center Institutional Review Board, and the population used was Olmsted County residents. A total of 4453 patients who presented with an initial episode of hematuria from January 1, 2000, through December 30, 2010, were included. Of the 4453 patients (median age, 58 years; interquartile range, 44.6-73.3 years), 1487 (33.4%) had gross hematuria, 2305 (51.8%) had AMH, and 661 (14.8%) had SMH. Results In the 1487 patients with gross hematuria, the prevalence of RCC, UT-UC, and LT-UC was 1.3%, 0.8%, and 9.0%, respectively. In the 2305 patients with AMH, the prevalence of RCC, UT-UC, and LT-UC was 0.2%, 0.3%, and 1.6%, respectively. In the 661 patients with SMH, the prevalence of RCC, UT-UC, and LT-UC was 0.6%, 0.2%, and 0.3%, respectively. Age was the most relevant risk factor for any hematuria type. Conclusion This unique cohort study reported that the prevalence of RCC or UC in patients with AMH and SMH was low, especially in the young cohort, and a large number of intense work-ups, such as cystoscopy and computed tomography urography, currently conducted could be omitted if stratified by hematuria type and age.

Nephrogenic adenomas represent a suspected metaplastic response of the uroepithelium to chronic inflammation and are typically associated with recurrent urinary tract infections, stones, prior radiation therapy and other irritative factors, more commonly seen in adults. Nephrogenic adenoma (also known as nephrogenic metaplasia) usually involves the bladder in adults and represents a rare lesion that can easily be misdiagnosed as a malignancy. We present the case of a 14-year-old male with prior history of acute lymphoblastic leukemia (ALL) who presented with a several month history of vague flank pain which increased in intensity, leading to an emergency department presentation with the only significant finding on exam being microhematuria. Subsequent imaging showed a tumor like replacement of the right ureter with proximal hydronephrosis, initially felt to represent recurrent leukemia. Pathology revealed the tumor like ureteral replacement to represent a nephrogenic adenoma, a benign entity which often responds to conservative management, though not previously reported in the ureter in pediatrics.

Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder with genetic defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex in phagocytes, leading to recurrent severe infections and granuloma formation. Genitourinary involvement, including obstructive granulomas, infections, nephrotoxicity of anti-infective agents, and amyloidosis, is frequently observed in patients with CGD, whereas the clinical and pathological details of the less commonly reported glomerular disease remain obscure. Here, we report the case of a patient with CGD who developed rapidly progressive IgA vasculitis-associated nephritis (IgAVN) and review the literature on biopsy-proven glomerular diseases in patients with CGD. A 22-year-old male patient with CGD developed rapidly progressive glomerulonephritis (RPGN) following peripheral purpura and was diagnosed with crescentic IgAVN based on the renal biopsy evaluation. There was no evidence of active infections, and he received pulse intravenous methylprednisolone followed by oral prednisolone. His renal function returned to normal within 4 weeks, and his proteinuria and microhematuria finally resolved. The present case and literature review indicate that IgAVN and IgA nephropathy with RPGN are the most common causes of glomerular disease in patients with CGD. Clinicians should be aware of the possibility of these diseases as causes of RPGN in CGD, because delays in diagnosis and appropriate treatment may affect renal outcomes.

Gastrointestinal (GI) symptoms of SARS-CoV-2/COVID-19 in the form of anorexia, nausea, vomiting, abdominal pain and diarrhea are usually preceded by respiratory manifestations and are associated with a poor prognosis. Hematochezia is an uncommon clinical presentation of COVID-19, and we hypothesize that older patients with significant comorbidities (obesity and cardiovascular) and prolonged hospitalization are susceptible to ischemic injury to the bowel. We reviewed the clinical course, key laboratory data including acute-phase reactants, and drug/medication history in 2 elderly male patients admitted for COVID-19 respiratory failure. Both patients had a complicated clinical course and suffered from hematochezia, acute blood loss, and anemia which led to hemodynamic instability requiring blood transfusion around day 40 of their hospitalization. Colonoscopic impressions were correlated with the histopathological findings in the colonic biopsies that included changes compatible with ischemia and nonspecific acute inflammation, edema, and increased eosinophils in the lamina propria. Both patients were hemodynamically stable, on prophylactic anticoagulants, multiple antibiotics, and antifungal agents due to respiratory infections at the time of lower GI bleeding. Hematochezia resolved spontaneously with supportive care. Both patients eventually recovered and were discharged. Elderly patients with significant comorbid conditions are uniquely at risk for ischemic injury to the bowel. This case report highlights hematochezia as an uncommon GI manifestation of spectrum of COVID-19 complications. The causes of bleeding in these COVID-19 associated cases are likely multifactorial and can be attributed to concomitant etiologies based on their age, multiple comorbid conditions, prolonged hospitalization compounded by lung injury, and hypoxia precipitated by the virus. We hypothesize that rather than a direct viral cytopathic effect, ischemia and hypoperfusion may be unleashed due to the cytokine storm orchestrated by the virus that leads to abnormal coagulation profile. Additional factors that may contribute to ischemic injury are prophylactic use of anticoagulants and polypharmacy. There were no other causes to explain the brisk lower GI bleeding. Presentation of hematochezia was followed by hemodynamic instability that may further increase the mortality and morbidity of COVID-19 patients, and prompt consultation and management by gastroenterology is therefore warranted.

Thrombotic microangiopathy (TMA) is characterized by systemic microvascular thrombosis, target organ injury, anemia and thrombocytopenia. Thrombotic thrombocytopenic purpura, atypical hemolytic uremic syndrome and Shiga toxin E-coli-related hemolytic uremic syndrome are the three common forms of TMAs. Traditionally, TMA is encountered during pregnancy/postpartum period, malignant hypertension, systemic infections, malignancies, autoimmune disorders, etc. Recently, the patients presenting with trauma have been reported to suffer from TMA. TMA carries a high morbidity and mortality, and demands a prompt recognition and early intervention to limit the target organ injury. Because trauma surgeons are the first line of defense for patients presenting with trauma, the prompt recognition of TMA for these experts is critically important. Early treatment of post-traumatic TMA can help improve the patient outcomes, if the diagnosis is made early. The treatment of TMA is also different from acute blood loss anemia namely in that plasmapheresis is recommended rather than platelet transfusion. This article familiarizes trauma surgeons with TMA encountered in the context of trauma. Besides, it provides a simplified approach to establishing the diagnosis of TMA. Because trauma patients can require multiple transfusions, the development of disseminated intravascular coagulation must be considered. Therefore, the article also provides different features of disseminated intravascular coagulation and TMA. Finally, the article suggests practical points that can be readily applied to the management of these patients.

Objective To study the differences between solar retinopathy (SR) and the maculopathy produced by laser pointer (LPM) using multimodal imaging. Method A retrospective series is presented of 20 eyes of 12 patients with injuries associated with light, 7 with SR-compatible injuries, and 5 with LPM. At diagnosis, a complete opht-halmological examination was performed, including visual acuity (VA), retinography, andspectral domain optical coherence tomography (OCT). The patients were followed-up for a mean period of 20 months. Results LPM is common in paediatrics (mean age 15.60 ± 1.5 years), and SR affects patients of all ages (mean age 47.56 ± 1.51 years). VA at diagnosis in LPM is greater, and recovery is more complete than in solar retinopathy. In conventional retinography, SR is shown as a single lesion in the macular area (100% of cases), while LPM usually presents as multifocallesions (86% of cases). Infrared reflectance makes this difference clearer. The main sign in OCT is the disruption of the ellipsoid layer and interdigitation zone. This sign is maintained over time, and its size is greater in the SR than in the LPM. Hyper-reflective columns and hyper-reflective reaction of the retinal pigment epithelium are associated with the acutephase. Conclusions LPM and SR show significant differences in the type of patient affected, as well as in the signs in multimodal imaging, as well as in functional impairment and their evolution.

Photic maculopathy, also known as foveomacular retinitis, is the retinal injury induced by direct or indirect exposure to light. This includes prolonged exposure to sunlight, laser, arc‐welding, li...

The review article presents data on: a) definition of microhematuria and diagnosis; b) prevalence estimation and causes of the asymptomatic microscopic hematuria; c) diagnostic approaches for the first time identified of microhematuria; d) follow-up monitoring of patients with asymptomatic hematuria; e) feasibility of medical screening for microhematuria. The analysis includes recommendations of Russian and foreign urological associations, the results of cohort and observational studies, previous study reviews. The identification of 3 or more red blood cells during microscopic examination should be considered microhematuria. There is no uniform examination algorithm for all patients. The basic principle is an individual diagnostic tactic, taking into account the anamnesis, age, concomitant diseases and risk factors. The purpose of a comprehensive examination is to exclude life-threatening conditions (malignant neoplasms and/or glomerular kidney damage). In some cases, after research, the cause of microhematuria remains unclear and monitoring is required. Routine screening of the population in order to detect microhematuria is currently not justified.В обзорной статье представлены данные по вопросам: а) определения понятия микрогематурия и методов ее выявления; б) оценки распространенности и причин бессимптомной микрогематурии; в) диагностических подходов при первичном (случайном) выявлении микрогематурии; г) последующего мониторинга пациентов с бессимптомной гематурией; д) целесообразности скрининга на микрогематурию. В анализ включены российские и зарубежные рекомендации профессиональных сообществ, результаты когортных и обсервационных исследований, ранее выполненные обзоры. Микрогематурией следует считать выявление 3 и более эритроцитов при микроскопическом исследовании. В мире отсутствует единый для всех пациентов алгоритм обследования. Основной принцип индивидуальная диагностическая тактика с учетом анамнеза, возраста, сопутствующих заболеваний и факторов риска. Целью комплексного обследования является исключение жизнеугрожающих состояний (злокачественного новообразования и/или гломерулярного поражения почек). В части случаев после проведения исследований причина микрогематурии остается неясной и требуется мониторинг. Рутинный скрининг населения с целью выявления микрогематурии в настоящее время не считается обоснованным.

Background Coexistence of fibrillary glomerulonephritis (FGN) and immunoglobulin A (IgA) nephropathy (IgAN) in the same kidney biopsy (FGN–IgAN) is rare, and the clinicopathologic characteristics and outcome of this dual glomerulopathy are unknown. Methods In this study, 20 patients with FGN–IgAN were studied and their characteristics were compared with 40 FGN and 40 IgAN control patients. Results Concurrent IgAN was present in 1.8% of 847 consecutive FGN cases and was the second most common concurrent glomerulopathy after diabetic nephropathy. FGN–IgAN patients were overwhelmingly White (94%) and contrary to FGN patients were predominantly (60%) males. Compared with IgAN patients, FGN–IgAN patients were older, had higher proteinuria, a higher incidence of renal insufficiency, and a lower incidence of microhematuria and gross hematuria at diagnosis. Six (30%) patients had malignancy, autoimmune disease or hepatitis C infection, but none had a secondary cause of IgAN or clinical features of Henoch–Schonlein purpura. Histologically, all cases exhibited smudgy glomerular staining for immunoglobulin G and DnaJ homolog subfamily B member 9 (DNAJB9) with corresponding fibrillary deposits and granular mesangial staining for IgA with corresponding mesangial granular electron-dense deposits. On follow-up (median 27 months), 10 of 18 (56%) FGN–IgAN patients progressed to end-stage kidney disease (ESKD), including 5 who subsequently died. Serum creatinine at diagnosis was a poor predictor of renal survival. The proportion of patients reaching ESKD or died was higher in FGN–IgAN than in IgAN. The median Kaplan–Meier ESKD-free survival time was 44 months for FGN–IgAN, which was shorter than IgAN (unable to compute, P = 0.013) and FGN (107 months, P = 0.048). Conclusions FGN–IgAN is very rare, with clinical presentation and demographics closer to FGN than IgAN. Prognosis is guarded with a median renal survival of 3.6 years. The diagnosis of this dual glomerulopathy requires careful evaluation of immunofluorescence findings, and electron microscopy or DNAJB9 immunohistochemistry.

Descripción del caso clínico: Masculino de 47 años que presentó lesiones cutáneas nodulares rojo-violáceas en cara, cuero cabelludo y manos, biopsia con reporte de metástasis de tumor renal. Estado general conservado, masa palpable abdominal y microhematuria. Tomografía reportó tumor renal derecho infiltrando grasa perirrenal. Se realizó nefrectomía radical derecha, reporte histopatológico tumor de células claras con 60% de componente sarcomatoide. Inició sunitinib con involución de las lesiones cutáneas, tras 2 semanas de intermitencia presentó recurrencia modificándose la dosis. Tres meses después presentó actividad metastásica cerebral, hepática y ósea evolucionando tórpidamente, falleciendo a cinco meses del diagnóstico. Relevancia: Particularmente nuestro caso no solo presenta una forma infrecuente de metástasis de cáncer renal recidivante a pesar del tratamiento con inhibidores de la tirosincinasa, sino también diferenciación sarcomatoide, una variante muy agresiva de cáncer renal. Implicaciones clínicas: Las metastásis cutáneas de cáncer renal presentan una incidencia aproximada de 3%, si bien no es de buen pronóstico encontrarlas, su detección oportuna es primordial en todo paciente. Conclusiones: El carcinoma renal sarcomatoide es un tumor raro y de pronóstico sombrío, generalmente asociado a metastásis a distancia. Es necesaria la valoración cutánea completa de todo paciente diagnosticado con cáncer renal para el adecuado estadiaje y tratamiento.

To study the characteristics of photoreceptors on adaptive optics (AO) in patients of solar retinopathy and its correlation to changes in spectral domain optical coherence tomography (SDOCT) and visual acuity. This is a cross-sectional observational study of six eyes of five patients with clinically diagnosed solar retinopathy. Five age-matched controls were included for comparison. A flood-illuminated adaptive optics retinal camera (AO; rtx1, Imagine Eyes, Orsay, France) was used to image the photoreceptors and a spectral domain optical coherence tomography (SDOCT; Spectralis™ Heidelberg Engineering, Germany) was used to study the retinal layers in these patients. The corrected distance visual acuity (CDVA) was assessed using Snellen’s chart. Defects on the SDOCT were smaller (0.25 to 0.75°) at the fovea compared with AO (more than 1°). The cone mosaic was preserved beyond 1°. The cone count from the foveal center at 0.75, 1, 2, and 3° was decreased in all patients of solar retinopathy (mean value 5352) compared with age-matched controls (mean value 15693). A corresponding increase in spacing (mean value 19.13) compared with controls (mean value 9.34) was also observed. The CDVA ranged from 20/30 to 20/80. There was no statistically significant relationship between cone density, at any of the eccentricities measured, with CDVA or OCT defect (p > 0.05, for all). Adaptive optics is a sensitive and accurate tool to analyze photoreceptor damage in solar maculopathy. It can be used as an adjunct for better understanding of the pathology and to observe or predict changes in these patients.

Patients presenting with microhematuria represent a heterogeneous population with a broad spectrum of risk for genitourinary malignancy. Recognizing that patient-specific characteristics modify the risk of underlying malignant etiologies, this guideline sought to provide a personalized diagnostic testing strategy.The systematic review incorporated evidence published from January 2010 through February 2019, with an updated literature search to include studies published up to December 2019. Evidence-based statements were developed by the expert Panel, with statement type linked to evidence strength, level of certainty, and the Panel's judgment regarding the balance between benefits and risks/burdens.Microhematuria should be defined as ≥ 3 red blood cells per high power field on microscopic evaluation of a single specimen. In patients diagnosed with gynecologic or non-malignant genitourinary sources of microhematuria, clinicians should repeat urinalysis following resolution of the gynecologic or non-malignant genitourinary cause. The Panel created a risk classification system for patients with microhematuria, stratified as low-, intermediate-, or high-risk for genitourinary malignancy. Risk groups were based on factors including age, sex, smoking and other urothelial cancer risk factors, degree and persistence of microhematuria, as well as prior gross hematuria. Diagnostic evaluation with cystoscopy and upper tract imaging was recommended according to patient risk and involving shared decision-making. Statements also inform follow-up after a negative microhematuria evaluation.Patients with microhematuria should be classified based on their risk of genitourinary malignancy and evaluated with a risk-based strategy. Future high-quality studies are required to improve the care of these patients.

Introduction There are more than 20 drugs, that are widely used as medical expulsive therapy after extracorporeal shock wave lithotripsy (ESWL). Herbal plants are actively used along with the drug therapy in order to improve the efficiency of the treatment. Purpose of the study to evaluate the efficiency of the drug "Renotinex" in patients with kidney stones, as medical expulsive therapy. Materials and methods A total of 41 patients with kidney stones who undergone ESWL were included in the study. Patients were divided into two groups of 21 patients. In the main group, patients received the dietary supplement "Renotinex" 2 capsules 2 times a day for 1 month, along with standard medical expulsive therapy (NSAIDs [Diclofenac suppositories 50 mg in case of pain] + alpha blockers [Tamsulosin 0.4 mg in the morning for 1 month). The efficiency of treatment was evaluated after 2 and 4 weeks by means of ultrasound and x-ray. A presence and mean size of the stone and dilatation of the collecting system were assessed. In addition, complete blood count (hemoglobin, level of red blood cells and white blood cells), as well as urinalysis (microhematuria and leukocyturia) were performed. For statistical analysis, Student's criterion and the Fishers method were used. Results After 2 weeks of treatment, a decrease in the hemoglobin level, number of leukocytes and erythrocytes in urine, as well as a significant decrease in pelvis size and the average size of the urinary stone were seen in the main group. In the control group, there was also a slight decrease in the hemoglobin and a significant increase in the grade of leukocyturia and microhematuria. After 4 weeks, significant intergroup differences were documented in the level of microhematuria, pelvis size and the presence of stone in the collecting system, as confirmed by ultrasound and X-ray study. Stone-free rate in the main group was 47.6%, compared to 20% in the control group. Conclusion Medical expulsive therapy in combination with dietary supplements "Renotinex" after ESWL is more efficient than standard medical expulsive therapy (NSAIDs and -blockers) as monotherapy.

Introduction In the structure of hospital urological pathology, urolithiasis is about 40%, while 2/3 of patients are hospitalized for emergency reasons. Surgical treatment, even in a modern minimally invasive format, can cause postoperative complications in 10-30% of cases, of which up to 5% are hemorrhagic complications requiring blood transfusion in 0.7-1.4% of cases. Materials and methods To determine the diagnostically significant risk factors for postoperative bleeding, the results of treatment of urolithiasis in 574 patients using remote lithotripsy were used. Based on the results of the statistical analysis, a computer program module "Method for predicting the development of hemorrhagic complications of the postoperative period in patients with urolithiasis" was developed. Results Of the 45 alleged risk factors for postoperative bleeding, 9 diagnostically significant ones were selected, including recurrent urolithiasis, a history of bleeding, hematuria, size and density of the calculus, and some indicators of the coagulogram. The threshold value of the amount of bleeding risk assessment in points is set to 8, that is, a result of more than 8 points corresponds to a high risk of bleeding. It was established that the risk of hemorrhagic complications in the postoperative period in urolitiasis increases with large stones (size from 5 mm) with high density (from 400 HU), with a decrease in the number of platelets (from 1701012/l) and lengthening of AChTV (from 40 c), PV (from 15 s) and TV (from 16 s), as well as in the presence of a history of recurrent urolithiasis, bleeding and preoperative microhematuria. Conclusion The developed computer program module allows you to quickly and objectively assess the risk of hemorrhagic complications at the stage of choosing the method of surgery, conduct preoperative prophylaxis and increase the effectiveness of surgical treatment of urolithiasis.

El sindrome uremico hemolitico (SUH) es uno de los principales motivos de insuficiencia renal aguda (IRA) en ninos; y supone una extrana y emergente enfermedad. Como entidad clinica, aun no se ha respondido a los problemas de: modo de evitar el dano renal, como prevenirla y manera de contener su evolucion a la enfermedad renal cronica (ERC); a pesar que el mecanismo fisiopatologico esta perfectamente identificado, asi como su compromiso vascular y sistemico. El interes por desarrollar la presente investigacion nace por querer desarrollar un aporte de contenido actualizado con el cual sea posible exponer sobre el diagnostico del sindrome uremico hemolitico (SUH), es por ello que el objetivo del presente estudio se basa en la recopilacion de informacion cientificoacademica mediante la ejecucion de una metodologia de revision bibliografica, que consistio en la utilizacion de bases de datos, buscadores especializados y web sites de destacadas organizaciones. En los resultados se deja evidencia de la informacion recuperada, que incluye: definiciones de SUH, tipos de SUH, factores de riesgo y diagnosis. En general se concluye que, el criterio diagnostico del SUH fundamentalmente oscila entre el examen fisico e historia completa (clinica) y la verificacion de las alteraciones propias de esta patologia mediante pruebas de laboratorio (bacteorologica) que, en sintesis, consiste en examenes de heces, de sangre y de orina; aunque para algunos casos es posible apoyarse tambien en otros medios de prueba que dependeran del cuadro clinico (fisiopatologia).

Absztrakt: A solaris retinopathia a fotoreceptorok és a retina pigmentepitheliumának ultraibolya (UV) fény okozta fotokémiai és termikus károsodása. A behatás következtében a leggyakoribb panaszok között a visuscsökkenés, a homályos látás és a pozitív scotomák szerepelnek. A diagnózis alkotásában az optikai koherencia tomográfia (OCT), a mikroperimetria és a fluoreszcein angiográfia (FLAG) nyújt segítséget. A szerzők egy 18 éves férfi esetét mutatják be, aki prolongált napfény-expozíció után jelentkezett a Semmelweis Egyetem Szemészeti Klinikáján, mindkét szemet érintő centralis scotoma miatt. Az OCT-felvételeken a retina egyes rétegeiben folytonossághiányt és reflexiófokozódást figyeltünk meg, míg mikroperimetriás vizsgálattal a laesióknak megfelelően érzékenységcsökkenés volt tapasztalható. A féléves követés során a jobb retina folytonossághiánya csökkent, míg a bal oldal teljes restitúciót mutatott. A mikroperimetriás lelet az OCT-n látottakkal korrelált. A beteg szubjektív panasza a jobb szemén minimálisra csökkent, mindennapi életét nem korlátozza, a bal szemére megszűnt. A solaris retinopathiának jelenleg specifikus terápiája nincs. A panaszok és az eltérések kedvező esetben 3–6 hónap alatt normalizálódnak, ez felhívja a figyelmet a megfelelő tájékoztatás és a prevenció szerepére. Orv Hetil. 2020; 161(16): 632–636.

Background While advancements in surgery and reduced complication rates have made total knee arthroplasty (TKA) one of the most successful and cost-effective procedures in orthopaedic surgery, routine postoperative laboratory tests are still being ordered without evidence as to their necessity. With expansion of the bundled payment models, there may exist an opportunity to cut overall costs while maintaining quality of care by eliminating unnecessary interventions. The objective of this study was to examine the utility of routine postoperative laboratory tests in TKA. Methods A retrospective review of 319 TKAs performed at a single institution over a 2-year period was performed. The primary outcomes were the rates of acute blood loss anemia requiring transfusion, acute kidney injury (AKI), electrolyte abnormalities, and 90-day emergency department visits and readmissions. Multivariate logistic regression analysis was also performed to identify the risk factors associated with abnormal laboratory values. Results 89 patients (27.9%) had abnormal postoperative laboratory results, of which 78% were exclusively due to electrolyte (sodium or potassium) abnormalities. The rates of AKI and blood transfusion were 3.8% and 1% respectively. Factors associated with electrolyte abnormalities were abnormal baseline electrolyte levels (p = 0.002 and = 0.006 for sodium and potassium respectively) and anemia (p = 0.049). Factors associated with blood transfusion were ASA score ≥3, preoperative anemia, and no tranexamic acid use. Factors associated with AKI were chronic kidney disease or having at least two of the following: age >65 years, BMI> 35, ASA score ≥3, diabetes, heart disease, and/or anemia. Laboratory results did not change the course of care in 305 of 319 patients (95.6%). There was no increased risk for 90-days ED visits or readmissions with abnormal laboratory values (p = 0.356). Conclusion With increasing pressure for cost containment in an era of bundled payment models, the very low rate of laboratory associated interventions suggest that routine postoperative laboratory tests is not justified. Obtaining laboratory after primary, unilateral TKA should be driven by patients’ risk factors.

Introduction: Diabetic nephropathy (DN) is one of the most frequent complications in patients with diabetes mellitus (DM) and its diagnosis is usually established on clinical grounds. However, kidney involvement in some diabetic patients can be due to other causes, and renal biopsy might be needed to exclude them. The aim of our study was to establish the clinical and analytical data that predict DN and no-diabetic renal disease (NDRD), and to develop a predictive model (score) to confirm or dismiss DN. Material and methods: We conducted a transversal, observational and retrospective study, including renal biopsies performed in type 2 DM patients, between 2000 and 2018. Results: Two hundred seven DM patients were included in our study. The mean age was 64.5 ± 10.6 years and 74% were male. DN was found in 126 (61%) of the biopsies and NDRD in 81 (39%). Diabetic retinopathy was presented in 58% of DN patients, but only in 6% of NDRD patients (p 3 had DN and 94% of cases with a score ≤1 had NDRD (score ranked from −6 to 8 points). Conclusions: NDRD is common in DM patients (39%), being primary glomerulonephritis the most frequent ethology. The absence of retinopathy and the presence of microhematuria are highly suggestive of NDRD. The use of our predictive model could facilitate the indication of performing a renal biopsy in DM patients. Resumen: Introducción: La nefropatía diabética (ND) es una complicación frecuente de la diabetes mellitus (DM), y su diagnóstico suele ser clínico. Sin embargo, en numerosas ocasiones la enfermedad renal que presentan los pacientes diabéticos es debida a otras causas cuyo diagnóstico es histológico. El objetivo del estudio fue determinar los datos clínicos y analíticos predictores de ND y enfermedad renal no diabética (ERND), y elaborar un modelo predictivo (score) para confirmar o descartar ND. Material y métodos: Estudio observacional, transversal y retrospectivo de biopsias renales realizadas en pacientes diabéticos tipo 2 entre 2000 y 2018. Resultados: Se incluyeron 207 pacientes diabéticos con una edad media de 64.5 ± 10,6 años; el 74% eran varones. La biopsia mostró ND en 126 (61%) y en 81 ERND (39%). La retinopatía diabética estaba presente en el 58% de los pacientes con ND y en el 6% del grupo con ERND (p 3 era tenían ND, y el 94% de los casos con score ≤ 1 punto fueron ERND. Conclusiones: La ERND es frecuente en pacientes con DM (39%). La etiología más frecuente son las glomerulonefritis primarias. La ausencia de retinopatía y la presencia de microhematuria son altamente sugestivas de ERND. La utilización de un sistema de puntuación facilita la indicación de biopsia renal en pacientes diabéticos.

Solar radiation causes acute foveal injury resulting in outer retinal defects. Symptoms often follow an event of unprotected gazing at a solar eclipse or directly viewing the sun. We encountered a series of cases during winter among habitants of high altitudes who complained of visual field scotomas. All of them had a typical history of prolonged sunbathing but denied gazing at the sun directly. Optical coherence tomography showed outer retinal defects involving the ellipsoid zone characteristic of solar retinopathy in all patients. In this case series, we would like to emphasize the role of geographical factors in the causation of solar retinopathy.

INTRODUCTION AND OBJECTIVE:To explore how laboratories in the United States report red blood cell per high powered field (RBC/HPF) counts on urinalysis and to evaluate whether their methods can eff...

Aim To describe the clinical features and multimodal images of unilateral foveomacular retinitis in young Korean soldiers. Methods Ten patients having foveomacular retinitis were included. Fluorescein angiography, fundus autofluorescence (FAF), infrared reflectance (IR), and spectral-domain optical coherence tomography (SD-OCT) were analyzed. Results All patients were young males experienced insidious visual decline without exposure to bright light. Initial and final vision ranged from hand movement to 20/20 (median 20/200) and 20/2000 to 20/20 (median 20/500), respectively. Vision decreased in 6 patients while improved in two. Typical macular abnormality was yellow granular spots. SD-OCT showed ellipsoid zone (EZ) or interdigitation zone (IZ) disruption of fovea. The degree of EZ/IZ damage correlated with vision. Lesions were clearly visualized through IR and matched with SD-OCT findings. Conclusion This is the first case series of foveomacular retinitis diagnosed with multimodal imaging. Foveomacular retinitis should be suspected in sudden unilateral visual decline especially in young soldiers. SD-OCT is the most important diagnostic modality.

Highlights • This is a rare case of Axillo-subclavian dissection and pseudoaneurysm following blunt chest injury. • Inferior shoulder dislocation is uncommon but may cause serious vascular injury and life-threatening hemorrhage. • An endovascular approach was life-saving for our patient considering her advanced age and medical comorbidities., Introduction Axillo-subclavian arterial injuries are generally associated with penetrating trauma. On rare occasion, blunt mechanisms can cause these injuries in the setting of high-energy trauma, humeral head or neck fractures, and severe glenohumeral dislocations. Glenohumeral dislocations sustained from ground-level falls are generally reduced in the emergency department without associated morbidity. Presentation of case An 80-year-old woman presented with an inferior glenohumeral dislocation after a ground-level fall that was found to be complicated by axillary dissection, pseudoaneurysm, and acute hemorrhage. Endovascular intervention with a balloon-inflatable stent successfully controlled extravasation and restored perfusion to the affected upper extremity. After a short hospitalization, the patient was discharged with intact neurovascular status. Discussion Blunt axillary artery injury and inferior glenohumeral dislocations are both uncommon entities. A correlation exists between inferior dislocations and neurovascular complications. Accordingly, there may be a role for diagnostic vascular imaging for patients with inferior glenohumeral dislocations. Endovascular stenting was successful in our case and backed by case series and cohort studies in the literature. Some controversy exists regarding stent patency and follow-up planning in trauma patients. Conclusion This case represents a critical vascular injury from an unexpected mechanism. Inferior glenohumeral dislocations, regardless of injury mechanism, should raise the index of suspicion for vascular involvement. Endovascular repair in our patient was life-saving given her advanced age, acute blood loss anemia, rarity and severity of her injuries and multiple medical comorbidities.

Background Alport syndrome is a hereditary nephropathy caused by mutations in collagen IV genes and characterized by ultrastructural lesions of the glomerular basement membrane. Some patients have a negative family history with apparently de novo mutations. Although somatic mosaicism has been postulated, as cryptic mosaicism cannot be detected from mutational screening on peripheral blood samples, cases in kidney-confined mosaic form have been missed. Methods We report the case of a 24-year-old male patient with X-linked Alport syndrome diagnosis due to a COL4A5 pathogenic mutation (c.3334_3337dup [p.Gly1113Alafs25]). The same mutation had not been previously detected on a peripheral blood sample of maternal DNA. However, the mother, who was undertaking a clinical re-evaluation to take in consideration the possibility of a living-kidney transplantation, had experienced persistent microhematuria since the age of 10 years. Results A next-generation sequencing approach performed on maternal DNA from both peripheral blood sample and urine-derived podocyte-lineage cells unmasked the COL4A5 mutation only in the podocyte-lineage cells. Conclusions This finding unveils an early postzygotic event which can explain both the renal involvement and germline mosaicism. It changes the inheritance risk for each pregnancy raising it to 50% and underlines the need for different clinical management in the mother. This seems to indicate that a case-by-case more cautious approach is needed with mother-to-son kidney transplants.

Cryptosporidial enteritis has a rising incidence in the USA, mostly affecting immunocompromised individuals and children. It has a self-limiting course in healthy hosts. Herein, we present a unique case of a healthy middle-aged female who presented with a 1-month history of voluminous watery diarrhea and acute blood loss anemia. Cryptosporidial enteritis was diagnosed based on endoscopy with biopsy-proven evidence of 2 jejunal peptic ulcers infected with Cryptosporidiumspp. that was originally missed on routine stool culture, ova and parasite tests. The patient was successfully treated with nitazoxanide,and eradication of the protozoan was also confirmed on repeat endoscopic biopsies of the ulcer that were carried out 6 months later. To our knowledge, this is the first case to be reported in the literature with infective colonization of peptic ulcers with Cryptosporidiumspp.with consequent systemic symptoms.

The aim of the research was to analyze the effectiveness of empirical therapy in patients with established complicated upper urinary tract infection (complicated pyelonephritis).Materials and methods. 51 patients who were treated in 2018 in the urological department of the Irkutsk City Clinical Hospital N 1 were subjected to a retrospective study. The average age of patients was 55.9 ± 16.9 years.Results. Successful empirical therapy was considered in the absence of correction of the treatment regimen and the normalization of clinical blood and urine tests. Of the patients included in the study, successful empirical therapy was found in 24 (47%) patients, and required correction in 27 (52.9 %) patients. Cephalosporins as monotherapy were ineffective in 24 (57.1 %) patients, carbopenems – in one (25 %), fluoroquinolones – in all (100 %). Aminoglycosides showed the best result as a combination therapy with cephalosporins – 100 % (n = 3) of success. Based on multivariate logistic regression analysis, it was established that the detection of microhematuria and uremia in clinical analyzes upon admission to the hospital increases the likelihood of empirical monotherapy with third-generation cephalosporins by 20 % and 27 %, respectively.Conclusion. It is advisable to refrain from the use of monotherapy with fluoroquinolones and third-generation cephalosporins until more information is available about the resistance of uropathogens in the population of the Irkutsk region. Patients with impaired renal function require particularly close attention of the clinician when choosing a scheme for the empirical treatment of complicated pyelonephritis.

In Western Europe, the incidence of both respiratory and cutaneous diphtheria, caused by toxin-producing Corynebacterium diphtheriae, Corynebacterium ulcerans or Corynebacterium pseudotuberculosis, has been low over the past few decades thanks to the use of an effective vaccine and a high level of vaccination coverage. However, the disease has still not been eradicated and continues to occur in all of Europe. In order to prevent sequelae or a fatal outcome, diphtheria antitoxin (DAT) should be administered to suspected diphtheria patients as soon as possible, but economic factors and issues concerning regulations have led to poor availability of DAT in many countries. The European Centre for Disease Prevention and Control and World Health Organization have called for European Union-wide solutions to this DAT-shortage. In order to illustrate the importance of these efforts and underline the need for continued diphtheria surveillance, we present data on all registered cases of toxigenic and non-toxigenic C. diphtheriae, C. ulcerans and C. pseudotuberculosis in Belgium during the past decade, up to and including 2017.

High-throughput techniques such as whole-exome sequencing (WES) show promise for the identification of candidate genes that underlie Mendelian diseases such as nephrotic syndrome (NS). These techniques have enabled the identification of a proportion of the approximately 54 genes associated with NS. However, the main pitfall of using WES in clinical and research practice is the identification of multiple variants, which hampers interpretation during downstream analysis. One useful strategy is to evaluate the co-inheritance of rare variants in affected family members. Here, we performed WES of a patient with steroid-resistant NS (SRNS) and intermittent microhematuria. Currently, 15 years after kidney transplantation, this patient presents normal kidney function. The patient was found to be homozygous for a rare MYO1E stop-gain variant, and was heterozygous for rare variants in NS-associated genes, COL4A4, KANK1, LAMB2, ANLN, E2F3, and APOL1. We evaluated the presence or absence of these variants in both parents and 11 siblings, three of whom exhibited a milder phenotype of the kidney disease. Analysis of variant segregation in the family, indicated the MYO1E stop-gain variant as the putative causal variant underlying the kidney disease in the patient and two of her affected sisters. Two secondary variants in COL4A4-identified in some other affected family members-require further functional studies to determine whether they play a role in the development of microhematuria in affected family members. Our data illustrate the difficulties in distinguishing the causal pathogenic variants from incidental findings after WES-based variant analysis, especially in heterogenous genetic conditions, such as NS.

To identify patterns of care for women referred for asymptomatic microhematuria in a single, hospital-based health care system and estimate the cost of unindicated evaluation.We conducted a retrospective study of 100 women with a diagnosis of asymptomatic microhematuria referred to a tertiary female pelvic medicine and reconstructive surgery practice. Our analysis focused on referral patterns by obstetrician-gynecologists and primary care physicians. Data analyzed included whether asymptomatic microhematuria was documented using urine microscopy (vs urine dipstick) and whether the urine microscopy correctly identified asymptomatic microhematuria with three red blood cells (RBCs).Forty-six patients were referred who met the American Urological Association's guidelines for asymptomatic microhematuria with a workup estimated at $8,298 per patient. Fifty-four were referred to a female pelvic medicine and reconstructive surgery specialist despite clearly not meeting the American Urological Association's definition of asymptomatic microhematuria. Of these, 33 patients were referred based on dipstick-positive results only, 11 were referred based on microscopic urinalysis demonstrating fewer than three RBCs per high-power field (HPF), and the remaining 10 patients were referred with urine microscopy demonstrating at least 3 RBC/HPF but in the setting of a clearly benign cause, such as infection or menstruation. The total estimated cost of the unnecessary asymptomatic microhematuria workup in patients who did not meet American Urological Association criteria for referral was $1,213 per patient.Fewer than half of the referrals for asymptomatic microhematuria were appropriate, leading to wasted and entirely preventable health care expenditures. This study highlights the need for education of health care providers making these referrals.

A 71-year-old woman with abnormal pulmonary shadows and multiple enlarged thoracic lymph nodes was diagnosed with stage IIB lung adenocarcinoma, pulmonary sarcoidosis, and sarcoidosis-associated lymphadenopathy after biopsies from multiple organ sites. She also had rapidly progressive renal dysfunction, microhematuria, and high myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA) concentrations. A renal biopsy revealed granulomatous tubulointerstitial nephritis and necrotizing glomerulonephritis with crescent formation. She was diagnosed with nephritis caused by both sarcoidosis and ANCA-associated vasculitis. Oral prednisolone was administered to treat her nephritis, resulting in improvement in both her renal dysfunction and her sarcoidosis-associated lymphadenopathy.

This is a rare, multimodal imaging report spanning a decade of monitoring in a patient with chronic solar retinopathy showing the natural course of the disease. Spectral-domain optical coherence tomography (SD-OCT) showed mild widening of subfoveal loss of ellipsoid and interdigitation zones bilaterally, progressive retinal pigment epithelial thinning in the right eye, and hyperplasia in the left eye. Structural en face OCT showed subfoveal tissue loss bilaterally. There was no leakage on fluorescein angiography and OCT angiography (OCTA), and dense B-scan OCTA images were unremarkable. Microperimetry revealed bilateral decreased central sensitivity and eccentric fixation in the left eye. Vision remained stable throughout. [ Ophthalmic Surg Lasers Imaging Retina . 2019;50:388–392.]

Although urine analysis is a simple and inexpensive method for the initial evaluation of renal colic patients presenting in emergency departments, it is regarded as unreliable for an exact diagnosis of urinary system stones. The aim of the present study is to assess the association between clinical demographics, and stone size and location, with the combined utility of urinalysis and unenhanced multidetector computed tomography (MDCT) in the emergency department. After gaining local Ethics Committee approval, a retrospective study was conducted with data from 186 patients who presented at our emergency service with flank pain and documented urolithiasis. Stone location and size was determined by MDCT, and the presence of microhematuria confirmed by urinalysis. The presence of hydronephrosis and clinical complaints were also recorded. A total of 186 patients were included in the present study, in which an absence of microhematuria was recorded in 24.7% patients. Urine density was found to be elevated in the microhematuria group (p=0.001). Upper urinary tract stones and hydronephrosis were found to be associated with the presence of microhematuria. Although statistically insignificant, an increased trend of microhematuria was observed with stones over 5 mm in size. Urinary stone size and location are directly associated with the incidence of microhematuria. Absence of microhematuria does not preclude MDCT imaging, however, especially in cases where stones are suspected in patients with renal colic. [Med-Science 2019; 8(2.000): 407-11]