Primary hyperoxaluria causing ESRD and gangrene of extremities leading to amputation

Primary hyperoxaluria is an uncommon, inherited metabolic disorder due to hepatic enzyme deficiencies with consequent hepatic oxalate overproduction and attendant systemic complications. The diagnosis is established on a combination of clinical parameters, elevated urinary excretion of oxalate and glycolate and determination of alanine glyoxylate aminotransferase in the liver tissue. We describe a 45-year-old female with end-stage renal disease secondary to nephrolithiasis, who presented with a fulminating vascular syndrome before confirming the diagnosis of primary hyperoxaluria. This case illustrates that in this infrequent clinical entity, the diagnosis is often delayed with incorrect initial management.     

Hemophagocytic lymphohistiocytosis: An unusual presentation of tuberculosis in hemodialysis patients

We report a series of three patients with end‐stage renal disease on maintenance hemodialysis presenting with hemophagocytic lymphohistiocytosis (HLH) as an unusual manifestation of extrapulmonary tuberculosis. All three patients were middle‐aged men. They presented with fever, pancytopenia, varying degrees of hepatosplenomegaly, abnormal liver function tests, coagulopathy, increased serum ferritin, and triglycerides. Tests for fever work‐up were negative. Bone marrow examination revealed hemophagocytosis and caseating granuloma. Acid fast bacilli were demonstrated in two patients. The HLH‐2004 diagnostic criteria suggested by the histiocytic society were followed to arrive at the diagnosis. All of them succumbed to death even before the definitive diagnosis could be made. We suggest that aggressive diagnostic work‐up must be done when hemodialysis patients present with fever and pancytopenia. Priority should be toward early diagnosis and appropriate treatment to improve the prognosis.     

Polycythemia due to obstructive sleep apnea in a patient on hemodialysis

Both anemia and sleep disordered breathing are common in patients with dialysis‐dependent stage 5 chronic kidney disease. Erythrocytosis resulting from obstructive sleep apnea (OSA) is rare in the general population and has never been described in the hemodialysis population. We present a case of asymptomatic isolated erythrocytosis and elevated serum erythropoietin level in an otherwise well and previously erythropoietin‐dependent chronic hemodialysis patient with chronic kidney disease secondary to ischemic nephropathy. There was no history or symptoms of cardio‐pulmonary or hepatic diseases nor any relevant family history. Screening work‐up for malignancies was negative. The clinical history was highly suggestive of OSA and severe OSA (respiratory disturbance index of 59) was confirmed by polysomnographic studies. Successful treatment of the OSA with continuous positive airway pressure resulted in permanent stabilization of the hemoglobin to levels below 13 g/dL without the need for repeated phlebotomies and in dramatic lowering of serum erythropoietin levels. To our knowledge, this is the first case of OSA mediated erythrocytosis in a dialysis patient documented in the literature.     

Ceria Nanoparticles Meet Hepatic Ischemia‐Reperfusion Injury: The Perfect Imperfection

The mononuclear phagocyte system (MPS, e.g., liver, spleen) is often treated as a “blackbox” by nanoresearchers in translating nanomedicines. Often, most of the injected nanomaterials are sequestered by the MPS, preventing their delivery to the desired disease areas. Here, this imperfection is exploited by applying nano‐antioxidants with preferential liver uptake to directly prevent hepatic ischemia‐reperfusion injury (IRI), which is a reactive oxygen species (ROS)‐related disease. Ceria nanoparticles (NPs) are selected as a representative nano‐antioxidant and the detailed mechanism of preventing IRI is investigated. It is found that ceria NPs effectively alleviate the clinical symptoms of hepatic IRI by scavenging ROS, inhibiting activation of Kupffer cells and monocyte/macrophage cells. The released pro‐inflammatory cytokines are then significantly reduced and the recruitment and infiltration of neutrophils are minimized, which suppress subsequent inflammatory reaction involved in the liver. The protective effect of nano‐antioxidants against hepatic IRI in living animals and the revealed mechanism herein suggests their future use for the treatment of hepatic IRI in the clinic.     

螺旋CT诊断肝炎性肝局灶结节及其与肝病实验室指标的相关性分析

目的:探讨螺旋CT诊断肝炎性肝局灶结节及其肝病实验室指标的相关性。方法:选取我院在2011年4月-2013年3月间收治的71例肝局灶性结节状增生患者,对其实行螺旋CT诊断,并与肝病实验室指标对比分析,判断两者之间的相关性。结果:CT诊断能够明确患者的病灶性质及大小,实验室检查能够判断患者的病灶病毒性特征,两者结合能够有效提高患者的诊断准确率。结论:CT诊断与实验室检查结合对于患者的准确诊断具有重要意义,值得推广应用。     

Spontaneous intercostal artery bleeding in a hemodialysis patient

Spontaneous rupture of an intercostal artery (ICA) is a rare but could be a life‐threatening emergency requiring prompt diagnosis and intervention for optimal outcome. We report a patient presented with swelling in his right‐side back which started immediately after scheduled hemodialysis and continued to increase in size. Contrast computed tomography scan revealed soft tissue attenuated lesion with internal enhancing dots which suggested expanding hematoma with active bleeding. Arteriography detected focal contrast extravasation from seventh ICA, and transcatheter arterial embolization was successfully done. To the best of our knowledge, this is the first report describing spontaneous bleeding of ICA in a hemodialysis patient.     

Life‐threatening spontaneous kidney rupture in a rare case with systemic lupus erythematosus: Prompt diagnosis with computed tomography

Nontraumatic, spontaneous parenchymal kidney rupture is a rare clinical entity that may cause extensive hemorrhage, hypovolemic shock, and death. Spontaneous nontraumatic kidney rupture is extremely rare in systemic lupus erythematosus (SLE) patients. Because of the high morbidity and mortality rates, an immediate establishment of the diagnosis and treatment are necessary. We present the case of a 30‐year‐old female with spontaneous parenchymal rupture of the right kidney who had renal failure due to SLE and presented with atraumatic sudden right flank pain during hemodialysis treatment. To our knowledge, this case is the second report of SLE manifesting as spontaneous kidney rupture in the literature.     

Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau‐Siemens

Epidermolysis bullosa is a rare genetic hereditary disease characterized with mechanobullous dermatosis. Except cutaneous, these patients have various extracutaneous manifestations and some types of epidermolysis bullosa comprise almost all organ systems. Because of prolonged life span, chronic renal insufficiency has become an important cause of morbidity and death in these patients. Establishment of functional vascular dialysis access is a great challenge for both the doctors and the patients. Multidisciplinary approach is essential. We present a case of successful establishment of dialysis access via Tesio catheter in a young woman suffering from epidermolysis bullosa dystrophica Hallopeau‐Siemens and end‐stage renal disease. Since then, the Tesio catheter inserted via the right internal jugular vein has been the functional mean of dialysis. The patient was given the opportunity to lead a quality and active life in spite of disabling disease. Several cases of successful dialysis access establishment with dialysis catheters via central veins have been reported. We report the successful establishment of long‐term dialysis access via Tesio catheter and suggest this approach as ideal for these patients. This is the first report dealing with vascular access in this group of patients.     

典型、非典型肝脓肿病灶的超声声像图特征分析

目的：观察分析典型、非典型肝脓肿病灶的超声声像图特征,总结其临床诊断价值。方法：选取我院2009年4月至2011年4月26例经手术病理检查证实为肝脓肿的患者,对其超声声像图特征进行回顾性分析。结果：二维超声诊断肝脓肿的符合率为91.3%,典型、非典型肝脓肿声像图具体表现中的病灶直径及发病位置比较存在一定差异（P〈0.05）,具有统计学意义。结论：采用二维超声诊断肝脓肿与手术病检的符合率较高,尤其对典型肝脓肿的诊断率较高,能对病灶进行准确定位;对部分未能确诊,尤其是非典型肝脓肿诊断困难的患者,可进一步采取超声造影进行准确的定性诊断。     

Spontaneous perirenal hemorrhage in hemodialysis patient treated with selective embolization: A case series and review of the literature

Introduction: Spontaneous perirenal hemorrhage (SPH) or Wunderlich syndrome, is a rare but potentially life‐threatening condition. It is characterized by an unexpected bleeding in the kidneys and usually presents as an abdominal pain. Angiography and more recently selective renal arterial embolization are emerging as effective modalities for the diagnosis and treatment of SPH. In this article, we report a total of three cases of SPH in hemodialysis (HD) patients. Methods: This is the experience of diagnosis and treatment of SPH in HD patients. Findings: All three were female, between 37 and 54 years of age and were undergoing HD for end stage renal disease (ESRD). Two of patients presented with left flank or abdominal pain after termination of HD therapy, while the third patient presented with left abdominal pain during the dialysis session. All patients received anti‐coagulation therapy for HD, but no abnormal levels of coagulation index were found. These patients were diagnosed using CT and two of them were diagnosed with acquired cystic kidney disease (ACKD). Selective renal arterial embolization was performed in the case of active bleeding. Discussion: We are aware that HD patients have elevated risk of bleeding related complications, additionally the presence of an acute abdominal pain increases the suspicion of SPH as a possible cause. ACKD can be considered one of the possible risk factors for SPH in long‐term HD patients. Interventional treatment for kidney injury is useful and safe for active bleeding in most cases.     

Hemodialysis‐associated soft tissue amyloidomas of the chest and abdominal wall

Amyloidoma is a highly unusual presentation of amyloidosis in tumoral or nodular form. Isolated soft tissue amyloidomas in individuals with end‐stage renal disease on chronic hemodialysis is exceedingly rare, particularly in the era of advanced dialysis technologies. We report the case of a 55‐year‐old male with end‐stage renal disease due to autosomal‐dominant polycystic kidney disease, on HD for over 30 years, who was found to have soft‐tissue, dialysis‐related (β₂‐microglobulin) amyloidomas (DRA). He presented with painful, palpable masses within the thoracic and abdominal walls. Serum β₂‐microglobulin level was only mildly elevated at 24.9 mg/L. Biopsy confirmed amyloidosis with positivity for Congo Red staining and apple‐green birefringence under polarized light. Amyloid subtyping with immunohistochemistry showed positive β₂‐microglobulin staining within the deposits. Conservative therapy involving pain management and close monitoring resulted in eventual improvement in symptoms and thus proved to be a viable option for treatment.     

Automated texture‐based characterization of fibrosis and carcinoma using low‐dose lung CT images

Lung cancer is the most common cause of cancer deaths worldwide and account for 1.38 million deaths per year. Patients with lung cancer are often misdiagnosed as pulmonary tuberculosis (TB) leading to delay in the correct diagnosis as well as exposure to inappropriate medication. The diagnosis of TB and lung cancer can be difficult as symptoms of both diseases are similar in computed tomography (CT) images. However, treating TB leads to inflammatory fibrosis in some of the patients. There comes the need of an efficient computer aided diagnosis (CAD) of the fibrosis and carcinoma diseases. To design a fully automated CAD for characterizing fibrous and carcinoma tissues without human intervention using lung CT images. The 18 subjects in this study include seven healthy, two fibrosis and eight carcinoma, and one necrosis cases. The dataset is built by CT cuts representing healthy is 113, fibrosis is 103, necrosis is 39, and carcinoma is 185 totalling 440 images. The gray‐level spatial dependence matrix and gray level run length matrix approach are used for extracting texture‐based features. These features are given to neural network classifier and statistical classifier. These classifier performances are evaluated using receiver‐operating characteristics (ROC). The proposed method characterizes these tissues without human intervention. Sensitivity, specificity, precision, and accuracy followed by ROC curves were obtained and also studied. Thus, the proposed automated image‐based classifier could act as a precursor to histopathological analysis, thereby creating a way to class specific treatment procedures.     

Disseminated tuberculosis: A neglected entity in immunocompromised hemodialysis patients

End‐stage renal disease is considered a factor predisposing to increased risk of tuberculosis with frequent extrapulmonary localization. Although extrapulmonary tuberculosis has been observed for decades, disseminated tuberculosis, a major cause of morbidity and mortality in immunocompromised hosts, remains rather neglected. We report an unusual case of an immunocompromised patient with a late diagnosis and delayed treatment of genitourinary tuberculosis that subsequently led to the diagnosis of vertebral and miliary tuberculosis (disseminating tuberculosis). Therefore, increased awareness is warranted from physicians dealing with hemodialysis patients in order to avoid delays in diagnosis and treatment initiation.     

Hemodialysis catheter insertion using transrenal approach

We report a patient suffering from end‐stage renal disease (ESRD) because of lupus nephritis presented with exhausted vascular access after multiple arteriovenous grafts creation and hemodialysis catheters insertion. A rare percutaneous transrenal approach was finally used for the insertion of dialysis catheter. After 2 years, this hemodialysis catheter was complicated by blockage but was successfully replaced by a new catheter via the same site. Our report shows that the transrenal route of hemodialysis catheter insertion can provide a glimpse of hope for those ESRD patients with exhausted vascular access.     

A report on four new cases of nephrogenic fibrosing dermopathy in chronic hemodialysis patients

Nephrogenic fibrosing dermopathy (NFD) is a rare clinical entity affecting patients with renal failure, often on chronic dialysis or after transplantation. The patient profile at risk for this debilitating condition is undefined. Lack of awareness of the condition has hampered epidemiologic work in identifying the etiology. We present four chronic hemodialysis (HD) patients who developed this disease. The patients' ages ranged from 26 to 75 years, and they had received HD from between 20 months and 10 years before the diagnosis of NFD. Two patients had a history of renal transplantation. All patients had progressive thickening and woody induration of the skin associated with contractures, leading to difficult ambulation, and permanent disability within weeks of the diagnosis. In one case, the diaphragm, psoas muscle, and pericardium were involved. The latter is likely the first report of pericardial involvement of NFD. In all four patients, the skin findings were restricted to the extremities, sparing the trunk and face. Skin biopsy findings included thickened dermis with particularly thickened collagen bundles, fibroblast proliferation, minimal mucin deposition, and nearly absent inflammation. The pathologic findings were distinct from scleromyxedema and scleroderma. We found no laboratory evidence of autoimmune disease or thyroid dysfunction to account for alternate etiologies. CD34‐positive cells were documented in the skin biopsies as well as in the diaphragm, psoas muscle, and pericardial tissue of the concerned case. NFD is a novel fibrosing disorder of progressively debilitating nature which needs further clinical characterization and recognition to guide investigation of its pathogenesis.     

Eliminating human tuberculosis in the twenty-first century.

Recognizing that tuberculosis (TB) is still the leading cause of human death from a curable infection, the international health community has set ambitious targets for disease control. One target is to eliminate TB by 2050; that is, to cut the annual incidence of new cases to less than 1 per million population. National TB control programmes are working to eliminate TB mainly by intensifying efforts to find and cure patients with active disease. Here, we use mathematical modelling to show that, while most TB patients can be cured with present drug regimens, the 2050 target is far more likely to be achieved with a combination of diagnostics, drugs and vaccines that can detect and treat both latent infection and active disease. We find that the coupling of control methods is particularly effective because treatments for latent infection and active disease act in synergy. This synergistic effect offers new perspectives on the cost-effectiveness of treating latent TB infection and the impact of possible new TB vaccines. Our results should be a stimulus to those who develop, manufacture and implement new technology for TB control, and to their financial donors.     

Use of urine volatile organic compounds to discriminate tuberculosis patients from healthy subjects

Development of noninvasive methods for tuberculosis (TB) diagnosis, with the potential to be administered in field situations, remains as an unmet challenge. A wide array of molecules are present in urine and reflect the pathophysiological condition of a subject. With infection, an alteration in the molecular constituents is anticipated, characterization of which may form a basis for TB diagnosis. In the present study volatile organic compounds (VOCs) in human urine derived from TB patients and healthy controls were identified and quantified using headspace gas chromatography/mass spectrometry (GC/MS). We found significant (p < 0.05) increase in the abundance of o-xylene (6.37) and isopropyl acetate (2.07) and decreased level of 3-pentanol (0.59), dimethylstyrene (0.37), and cymol (0.42) in TB patients compared to controls. These markers could discriminate TB from healthy controls and related diseases like lung cancer and chronic obstructive pulmonary disorder. This study suggests a possibility of using urinary VOCs for the diagnosis of human TB.     

Efficient Computer Aided Diagnosis System for Hepatic Tumors Using Computed Tomography Scans

One of the leading causes of mortality worldwide is liver cancer. The earlier the detection of hepatic tumors, the lower the mortality rate. This paper introduces a computer-aided diagnosis system to extract hepatic tumors from computed tomography scans and classify them into malignant or benign tumors. Segmenting hepatic tumors from computed tomography scans is considered a challenging task due to the fuzziness in the liver pixel range, intensity values overlap between the liver and neighboring organs, high noise from computed tomography scanner, and large variance in tumors shapes. The proposed method consists of three main stages; liver segmentation using Fast Generalized Fuzzy C-Means, tumor segmentation using dynamic thresholding, and the tumor's classification into malignant/benign using support vector machines classifier. The performance of the proposed system was evaluated using three liver benchmark datasets, which are MICCAI-Sliver07, LiTS17, and 3Dircadb. The proposed computer adided diagnosis system achieved an average accuracy of 96.75%, sensetivity of 96.38%, specificity of 95.20% and Dice similarity coefficient of 95.13%.     

The Use of Nanoparticles to Deliver Nitric Oxide to Hepatic Stellate Cells for Treating Liver Fibrosis and Portal Hypertension

Polymeric nanoparticles are designed to transport and deliver nitric oxide (NO) into hepatic stellate cells (HSCs) for the potential treatment of both liver fibrosis and portal hypertension. The nanoparticles, incorporating NO donor molecules (S‐nitrosoglutathione compound), are designed for liver delivery, minimizing systemic delivery of NO. The nanoparticles are decorated with vitamin A to specifically target HSCs. We demonstrate, using in vitro and in vivo experiments, that the targeted nanoparticles are taken up specifically by rat primary HSCs and the human HSC cell line accumulating in the liver. When nanoparticles, coated with vitamin A, release NO in liver cells, we find inhibition of collagen I and α‐smooth muscle actin (α‐SMA), fibrogenic genes associated with activated HSCs expression in primary rat liver and human activated HSCs without any obvious cytotoxic effects. Finally, NO‐releasing nanoparticles targeted with vitamin A not only attenuate endothelin‐1 (ET‐1) which elicites HSC contraction but also acutely alleviates haemodynamic disorders in bile duct‐ligated‐induced portal hypertension evidenced by decreasing portal pressure (≈20%) and unchanging mean arterial pressure. This study clearly shows, for the first time, the potential for HSC targeted nanoparticle delivery of NO as a treatment for liver diseases with proven efficacy for alleviating both liver fibrosis and portal hypertension.     

Thrombosis of the great cerebral vein in a hemodialysis patient

Cerebral venous thrombosis is a rare condition with various clinical presentations which may delay diagnosis. It is frequently associated with severe consequences. We present the first documented case of thrombosis of the great cerebral vein in a hemodialysis patient. A 29‐year‐old female patient with end‐stage renal disease of unknown etiology was admitted to a hospital with altered consciousness and nausea. Severe headache in the right parietal area had started 2 days before. On examination, she was in the poor overall condition, dysartric, with a severe nystagmus. Urgent brain multislice computerized tomography and magnetic resonance imaging revealed thrombosis of the great cerebral vein with hypodense zones in hypothalamus, thalamus and basal ganglia. She was treated with heparin bolus of 25000 IU with a favorable outcome. Detailed examination demonstrated increased lupus anticoagulant (LA) 1 and LA2 and increased LA1/LA2. Control magnetic resonance imaging performed 1 year later revealed multiple vascular lesions within the brain. Acetylsalicylate was introduced in therapy. Thrombosis of the cerebral veins should be suspected in patients with end‐stage renal disease, altered neurological status and signs of increased intracranial pressure.