Glomerulopathy in patients with dermatomyositis in early active disease: clinical,pathological and capillaroscopic manifestations,and response to treatment

IntroductionIdiopathic inflammatory myopathies (IIMs) are a group of systemic connective tissue diseases that present with muscular and extra-muscular manifestations. There are few reports on kidney involvement, especially in dermatomyositis (DM) patients. We evaluated the clinical, laboratory, capillaroscopy, and kidney pathology of patients with DM, who presented with proteinuria during the first year, and followed them for response to treatment.Material and methodsWe evaluated 205 patients with proximal muscle weakness or high muscle enzymes, who referred to the nailfold capillaroscopy clinic from April 2010 to October 2021. Seventy-four patients fulfilled the New 2017 EULAR/ACR Classification Criteria for adult and juvenile IM with probability of ≥ 90% for DM with duration of ≤ 12 months and proteinuria > 350 mg/24 hours. All manifestations of patients with glomerulopathy and their kidney biopsies were reviewed, and they were followed for their treatment response.ResultsFrom 74 patients with DM, 52 female and 22 male, median age 37 (19–65) years, and disease duration of median 4.5 (1–12) months, 2 (2.7%) patients (25- and 28-year-old male) had proteinuria. Their kidney biopsy showed mesangioproliferative glomerulonephritis (GN). There was no case of acute or chronic kidney damage or rhabdomyolysis. Both had high disease activity, high erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), abnormal capillaroscopy, and high anti-Ro positivity with good early response of their kidney function, muscle weakness, and laboratory tests after immunosuppressive treatment for 3–6 months. One patient had capillaroscopy follow-up, and all abnormalities were resolved in 8 fingers. One patient, due to poor follow-up, after 8 months had recurrence of his disease.ConclusionsWe found mesangioproliferative GN as a rare extra-muscular manifestation in patients with DM in the active and early phase of the disease. Full immunosuppressive treatment showed early complete recovery in these patients.     

Juvenile systemic sclerosis – observations of one clinical centre

ObjectivesThe systemic form of scleroderma (SSc) in children is a very rare disease; therefore, it is recognized relatively late, which increases the risk of complications. The aim of the study was to assess the clinical symptoms of juvenile systemic sclerosis (JSSc) in our cohort patients.Material and methodsA group of (N = 22) scleroderma patients aged between 2 and 16 years were observed. Demographic data and all clinical results obtained during 16 years of observation in the clinic of rheumatic diseases of developmental age were collected and analysed.ResultsIn all observed children the major JSSc criterion was found, i.e. skin thickening proximal to the metacarpal phalangeal and/or metatarsophalangeal joints. Other symptoms are presented as follows: nailfold capillary abnormalities – 100%, Raynaud’s phenomenon – 90.9%, sclerodactyly – 27.3%, digital tip ulcers – 27.3%, dysphagia – 18.2%, gastroesophageal reflux – 27.3% (assessed in only 10 children), arrhythmias – 22.7%, heart failure – 9.1%, new-onset arterial hypertension – 9.1%, pulmonary fibrosis – 72.7%, pulmonary arterial hypertension – 9.1%, neuropathy – 13.6%, carpal tunnel syndrome – 4.5%, tendon friction rubs – 4.5%, arthritis – 22.7%, and myositis – 13.6%. There were no cases of renal crisis. Decreased diffusing capacity of oxygen was confirmed in 12 patients (58.3%). The presence of antinuclear antibodies was noticed in 86.7% of patients, and among SSc selective autoantibodies: anticentromere – 31.8%, anti-topoisomerase I – 18.2%, anti-PM-Scl 100 or 75 – 45.5%, anti-RP11, Th/To, PCNA in total in 27.3% were presented. In 4.5% of cases, apart from the presence of anti-PM-Scl autoantibodies, positive lupus band test, reduced concentration of complement, and antiphospholipid antibodies were also found. In 59% of studied children, the body mass index was below the 25th percentile.ConclusionsThe presented retrospective analysis shows that the occurrence of Raynaud’s phenomenon with changes in nailfold capillaroscopy is the best screening toll for the assessment of risk of JSSc. All patients of developmental age with Raynaud’s phenomenon, especially in the case of the appearance of antinuclear antibodies, should be monitored with capillaroscopy regardless of other laboratory or imaging tests.     

Nailfold capillaroscopy changes with disease activity in patients with inflammatory myositis including overlap myositis,pure dermatomyositis,and pure polymyositis

ObjectivesNailfold capillaroscopy (NFC) is useful in the evaluation of connective tissue diseases. There are few capillaroscopy examinations in patients with idiopathic inflammatory myopathies (IIMs) using the 2017 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification. We evaluated the clinical, laboratory, and NFC in patients with IIMs using 2 classifications.Material and methodsIn this cross-sectional study, 150 patients with IIMs were selected based on the EULAR/ACR classification and the Troyanov and Senécal classification. Nailfold capillaroscopy, laboratory tests, clinical manifestations, and disease activity were evaluated.ResultsThe subgroups were as follows: 81 patient with dermatomyositis (DM), 25 with amyopathic dermatomyositis (ADM), 25 with juvenile dermatomyositis (JDM), 19 with polymyositis (PM),53 with pure DM, 11 with pure PM, and 51 with overlap myositis (OM). Eight (42%) patients with PM and 28 (34.5%) patients with DM were categorized as OM. The scleroderma pattern was the dominant capillaroscopy pattern in the DM (72.8%), JDM (72%), ADM (76%), pure DM (75.4%), and OM (78.4%) subgroups, respectively. In the DM, ADM, JDM, and OM subgroups, scleroderma pattern had an association with high skin Visual Analogue Scale (VAS) score (p < 0.05). In OM patients, the association between scleroderma pattern and high global VAS was also detected (p < 0.05).ConclusionsThe scleroderma pattern was the dominant capillaroscopy pattern in all groups except for PM and pure PM. Some of patients with PM could be categorized as OM. In the DM and pure DM subgroups, there was a significant association between global and skin activity and higher NFC score. Adding the NFC to the classification of IIM is probably helpful in more detailed classifications.     

经光学相干断层扫描的急性视网膜坏死九例患者临床分析

目的探讨经光学相干断层扫描（OCT）的急性视网膜坏死（ARN）患者的眼底表现。 方法对9例ARN患者均进行OCT检查、最佳矫正视力、裂隙灯眼前节检查、散瞳后间接检眼镜检查、彩色眼底照相、视野、角膜内皮检查、荧光眼底血管造影检查,观察OCT眼底变化。 结果9例患者共11只眼眼底检查发现玻璃体混浊、中周部视网膜见面积不等的斑片状视网膜坏死融合区、视网膜血管闭塞呈白线状。ARN患者临床诊断依据典型眼底表现：黄白色视网膜坏死病灶、闭塞性视网膜血管病变、前房和玻璃体腔炎性细胞等。对确诊的ARN患者静脉注射阿昔洛韦行抗病毒治疗,出现视网膜脱离时采取玻璃体切割手术。 结论OCT彩色眼底照片上观察到的特定病变与其OCT图像一致。通过OCT对ARN患者早期确诊,及时诊断、及时治疗,可显著改善ARN患者的视功能,提高疗效及其生活质量。     

Nailfold capillaroscopic findings in systemic sclerosis related lung fibrosis and in idiopathic lung fibrosis

ObjectiveInterstitial lung diseases (ILDs) are heterogeneous pathological conditions, which can be idiopathic or associated to other diseases, such as connective tissue diseases (CTD), especially systemic sclersosis (SSc). Both in primary and secondary forms of ILDs, fibroblastic and vascular anomalies are involved in the progressive structural destruction of lung parenchyma. Nailfold video-capillaroscopy (NFC) is a non-invasive diagnostic tool that permits detection of the main local microvascular alterations in SSc, which are an expression of the systemic vascular changes characteristic of this disease. The aim of this study is to record the range of capillaroscopic anomalies in patients with idiopathic pulmonary fibrosis (IPF) and to detect the main differences compared to patients with pulmonary fibrosis associated to SSc (SSc-PF).MethodsWe performed NFC on 23 patients with PF secondary to systemic sclerosis (SSc-PF), 20 patients with IPF, and 22 patients with chronic obstructive pulmonary disease (COPD) and we analysed the differences in morphological capillaroscopic parameters between the study groups.ResultsThe main finding of this study was the detection of minor capillaroscopic alterations in patients affected by IPF compared to SSc-PF patients, the latter having typical capillary loop changes. Particularly, we found that in IPF patients capillary density was significantly reduced and neoangiogenic aspects was significantly greater compared to patients with COPD.ConclusionsAn altered nailfold capillaroscopic pattern in IPF, as observed in this study, seems to support the hypothesis that a systemic vascular dysfunction in these patients plays a role in the pathogenesis of the disease.     

Severe hypertensive retinopathy. Increased incidence in renoparenchymal hypertension

In 205 patients with histologically evaluated glomerulonephritis, 69 patients with essential hypertension and 12 patients with renovascular hypertension, the retina was examined and evaluated by fundus photography. Changes of the retina were classified according to the recommendations of WHO: mild to severe changes of retinal arteries were termed as mild hypertensive retinopathy, and exaggerated changes, including exudates, hemorrhages and optic disc changes, as severe hypertensive retinopathy. In spite of the short duration of renal disease and the young age of the patients in many cases, retinal changes in patients with renal hypertension were significantly more severe: especially in focal segmental sclerosis and membranoproliferative glomerulonephritis was severe hypertensive retinopathy observed. Mild hypertensive retinopathy was more prevalent in essential hypertension. When renal disease progresses the retinal findings tended to deteriorate as well. Since the 24-hour blood pressure profile was comparable in most of the groups studied, it was supposed that the vulnerability of the retina and probably other vascular beds (e.g. kidneys) was increased. We conclude that the retina of these patients should be examined even in the case of relatively mild hypertension (greater than 180/100 mm Hg) and early antihypertensive treatment is an important requirement.     

Serum apolipoproteins are associated with systemic and retinal microvascular function in people with diabetes

Serum apolipoprotein (apo)AI and -B have been shown to be associated with diabetic retinopathy, but the underlying mechanisms are unclear. We investigated whether apoAI and apoB levels are associated with measures of systemic and retinal microvascular function in patients with diabetes. We recruited 224 diabetic patients (85 type 1 and 139 type 2) and assessed serum lipids and lipoproteins from fasting blood, skin responses to sodium nitroprusside (endothelium independent) and acetylcholine (ACh) (endothelium dependent) iontophoresis, flicker-light-induced retinal vasodilatation, and retinal vascular tortuosity. After adjustment for age and sex, every SD increase in apoAI level was associated with ACh-induced skin perfusion (mean change 1.27%; P < 0.001 for apoAI) and flicker-light retinal arteriolar vasodilatation (0.33%; P = 0.003) and was associated inversely with arteriolar tortuosity (-2.83 × 10(-5); P = 0.044). Each SD increase in apoB was associated with arteriolar tortuosity only (1.75 × 10(-5); P = 0.050). These associations, except for apoB, remained in multivariate models. Serum apoAI was associated with increased vasomotor responsiveness to ACh and flickering light and inversely related to retinal vessel tortuosity--a characteristic that has both structural and functional dimensions. These findings provide additional insights into the potential mechanisms of apos in the pathogenesis of diabetic retinopathy and other diabetic microvascular complications.     

Changes in retinal vessels related to varicocele: a pilot investigation

The aim of this study was to investigate whether retinal vasculature changes had occurred (retinal artery diameter, retinal vein diameter and artery/vein ratio) in patients with varicocele. This pilot study included 50 healthy subjects with any eye disease apart from slight refractive errors and 55 patients with varicocele. Retinal arteriolar and venular diameters were measured and summarised as central retinal arteriolar equivalent (CRAE) and central retinal venular equivalent (CRVE). Retinal microvascular diameters and the arteriolar–to‐venular ratio (AVR) were assessed with a digital retinal camera. All measurements and calculations were performed using a computer‐based program. The mean CRAE value was 151.8 ± 3.6 μm in the study group and 150.4 ± 4.5 μm in the control group. Mean CRVE value was 209.4 ± 5.9 μm in the study group and 200.1 ± 8.7 μm in the control group. AVR was found 0.72 ± 0.02 in the study group and 0.75 ± 0.03 in the control group. There were significant differences between groups in terms of CRVE and AVR. There were no significant differences between groups in terms of CRAE. The results of this study showed that the patients with varicocele showed significant changes on retinal vascular diameter.     

获得性免疫缺陷综合征患者早期眼底筛查的临床意义

目的探讨获得性免疫缺陷综合征患者早期进行眼底检查的临床意义。 方法92例AIDS患者随机分成两组,观察组与对照组各46例,两组患者均给予常规检查及治疗。观察组患者在常规检查和治疗基础上,还利用眼底彩色照相联合间接检眼镜进行眼底筛查,并比较两组患者的CD4⁺ T细胞计数水平。 结果观察组46例患者中20例（43.48%）眼底正常,16例（34.78%）单眼发病,10例（21.74%）双眼发病,其中14例（30.43%）患者眼底表现棉绒斑,3例（6.52%）患者眼底表现单纯视网膜出血,4例（8.7%）患者眼底表现巨细胞病毒性视网膜炎,5例（10.87%）患者眼底表现结核性视网膜脉络膜炎,分别有12例、2例、3例和4例患者病情得到控制。观察组中不同类型眼底病变患者CD4⁺ T细胞计数水平与对照组患者差异具有统计学意义（P均< 0.05）。与对照组相比,患者眼底病恶化时间平均缩短20%,差异具有统计学意义（F = 6.08、P = 0.048）。 结论眼底彩色照相联合间接检眼镜检查在AIDS患者发病早期可准确筛查出眼底病变,同时检测患者的CD4⁺ T细胞计数水平可为临床教学、科研提供宝贵资料;亦对提高AIDS眼底病患者诊断率,制定针对性治疗方案。     

Diabetic glycemic control and retinal blood flow

The effect of strict glycemic control on retinal volumetric blood flow rate (Q) was investigated in 13 insulin-dependent diabetic patients with laser Doppler velocimetry and monochromatic fundus photography. Strict glycemic control was achieved by glucose monitoring and four daily insulin injections. Q was determined in a major retinal vein at baseline and then 5 days, 2 mo, and 6 mo after the institution of strict control. Level of retinopathy was assessed from stereocolor fundus photographs taken at baseline and 6 mo. After 6 mo of strict diabetic control, five eyes demonstrated progression (P) by one or more retinopathy levels, and eight eyes showed no progression (NP). At 5 days, there was a significant decrease in Q of 1.4 +/- 0.9 microliters/min (P less than 0.005) in NP eyes and a nonsignificant increase in Q of 1.2 +/- 1.7 microliters/min in P eyes. Changes in Q from baseline observed at 5 days were strongly correlated with changes in retinopathy level at 6 mo (r = 0.79, P less than 0.005). No significant changes in Q from baseline were observed at 2 and 6 mo. A lack of decrease in Q at 5 days was associated with the progression of retinopathy that occurs in some patients after the institution of strict glycemic control and may serve as a predictor for progression of retinopathy.     

Catching the red eye: A retrospective review of factors associated with retinal hemorrhage in child physical abuse

Background/PurposeAccurate identification of child physical abuse is crucial during the evaluation of injured children. Retinal hemorrhages (RH) are used for diagnosis, but clear criteria for screening with direct fundoscopic exam are lacking. We sought to identify key factors associated with RH to guide evaluations.MethodsElectronic medical records for patients < 1 year of age presenting to a Level I Pediatric Trauma Center with unwitnessed head injury from January 2015 to December 2018 were retrospectively reviewed. Multivariable logistic regression was used to identify factors associated with RH.ResultsTwo hundred and seventy-six patients were included; 63% underwent direct fundoscopic examination, of which 23% were positive and 77% were negative for RH. Unscreened patients tended to be older and have isolated skull fractures. Multivariable regression analysis revealed that abnormal GCS and subdural hemorrhage were positively associated with a diagnosis of retinal hemorrhage, while isolated skull fracture was negatively associated.ConclusionsChildren under 1 year of age with subdural hemorrhage have a greater risk of associated RH and should undergo routine screening with direct fundoscopic examination. Conversely, those with isolated skull fractures may not require an ophthalmology consultation. Standardized screening protocols may help reduce the risk of missing child physical abuse.Level of EvidenceIII (Diagnostic Test).     

The pathogenesis, diagnosis and treatment of Raynaud phenomenon

The past 10 years have seen the publication of results from several multicentre clinical trials in primary and systemic sclerosis (SSc)-related Raynaud phenomenon. The publication of these studies has occurred as a result of new insights into the pathogenesis of Raynaud phenomenon, which are directing new treatment approaches, and increased international collaboration between clinicians and scientists. Although the pathogenesis of Raynaud phenomenon is complex, abnormalities of the blood vessel wall, of neural control mechanisms and of intravascular (circulating) factors are known to interact and contribute. Key players relevant in drug development include nitric oxide, endothelin-1, alpha adrenergic receptor activation, abnormal signal transduction in vascular smooth muscle, oxidative stress and platelet activation. The main advances in diagnosis have been a clearer understanding of autoantibodies and of abnormal nailfold capillary patterns as independent predictors of SSc, and widespread use and increased availability of capillaroscopy. The ultimate aim is to translate the advances made in the pathophysiology and early diagnosis into development of treatments to prevent and reverse digital vascular dysfunction and injury. This Review provides an update of the pathogenesis, diagnosis and treatment of Raynaud phenomenon. Current and future treatment approaches are discussed, and some key unanswered questions are highlighted.     

Capillaroscopy--an insufficiently known and underused method in rheumatology

Capillaroscopy is a noninvasive and harmless morphological method for examination of the nailfold capillaries in both suspected and already diagnosed patients with systemic connective disease. The most useful aspect is in discrimination between the patients with primary and secondary Raynaud's phenomenon. Many of the mentioned features should make capillaroscopy a part of the diagnostic algorithm and follow-up in everyday rheumatologic practice.     

干扰素治疗慢性丙型肝炎患者所致视网膜病变的特征性分析

目的观察使用干扰素治疗的慢性丙型肝炎（HCV）患者出现视网膜病变的特征。方法接受干扰素治疗后出现视网膜病变的患者共24例纳入研究。所有患者均进行矫正视力、裂隙灯显微镜、散瞳间接检眼镜、眼底彩色照相检查。眼底检查由具有丰富经验的眼底病医生完成。观察所有患者的眼底病变特征。结果本研究24例患者中男性16例,女性8例,男女比例为2：1;年龄21～78岁,平均年龄（48士14）岁。24例患者中有35只眼眼底异常,双眼发病13例,单眼发病11例。12例患者使用后出现视物模糊。眼底检查中：35只患眼中17例23只眼,占患眼的65．7％;眼底表现为单纯棉绒斑,单纯视网膜出血2例2只眼,占忠眼的5．7％;棉绒斑合并视网膜出血8例10只眼,占患眼的28．6％。棉绒斑及出血多位于视盘旁颞上或颞下血管附近,少数可散布于全后极部血管旁;其出血部位多位于棉绒斑旁,表现为后极部火焰状、点状出血或Roth斑。结论干扰素所致眼底视网膜病变最常见的特征为棉绒斑,使用后建议定期随访。     

How to perform high ultrasound examination of skin involvement among patients with systemic sclerosis – proposition of a unified protocol

IntroductionA fast and cheap method of skin assessment in systemic sclerosis (SSc) is an area of extensive research. Established in 1979, the Rodnan skin score is a palpation-based method used among clinicians. This method has some limitations, such as: examiner’s skills, subjective results, and no standardization. In the last few years researchers have been exploring ultrasound-based techniques as a possible tool for skin assessment among patients with SSc. The aim of the study is to develop a protocol of elastography-based skin imaging evaluation among patients with SSc.Material and methodsReview of the literature and own experience.ResultsProposition of elastography-based skin imaging protocol among patients with SSc.ConclusionsThe authors present a potential protocol of ultrasound-based examination of skin involvement among patients with SSc.     

Risk of retinal microembolism after off-pump and on-pump coronary artery bypass surgery

AIM: In order to investigate the neuroprotective efficacy of off-pump coronary artery bypass surgery (OPCAB) over conventional on-pump coronary artery bypass surgery (CCAB), we have performed a prospective randomized study evaluating retinal circulation changes after OPCAB and CCAB. METHODS: Twenty patients were randomized to OPCAB or CCAB. Retinal fluorescein angiography and 60 degrees black-and-white as well as color fundus photographs of both eyes of each patient were taken 1 to 24 h before and 5 to 6 days after the operation. RESULTS: Patients undergoing OPCAB had more severely stenosed carotid arteries (P=0.075), higher incidence of slightly diseased ascending aorta (P=0.087) and higher Northern New England Cardiovascular Study Group stroke risk score (P=0.075). Neither stroke nor transient ischemic attack occurred postoperatively in these patients. Inferotemporal retinal arterial embolization and microinfarction was detected in one patient after CCAB, but in none of the OPCAB group. CONCLUSION: The risk of retinal embolism can be minimized by the use of OPCAB and, most likely, by adequate epiaortic ultrasound scanning of the ascending aorta and avoiding clamping in case of severely diseased aorta.     

Retinal vascular findings and penile cavernosal artery blood flow

OBJECTIVE: To assess the correlation between retinal vascular findings and penile cavernosal arterial blood flow, as it is probable that systemic atherosclerotic vascular disease is important in male erectile dysfunction (ED), and being systemic, it might be possible to evaluate the extent of atherosclerosis from retinal vascular findings. PATIENTS AND METHODS: The study included 75 patients with ED; any with a history of pelvic injury, pelvic surgery, or diabetes mellitus were excluded. All patients gave fully informed consent. Ocular fundus photographs were taken with an automatic-focus fundus camera under amydriatic conditions. Three ophthalmologists, unaware of the patients' detailed data, evaluated the photographs using Hyman's classification to evaluate retinal vascular findings. Blood flow in the penile cavernosal artery was measured with colour Doppler ultrasonography, and the peak systolic velocity used as a haemodynamic variable. Correlations among the peak systolic velocity, retinal vascular findings and vascular risk factors (including hypertension, age, cigarette smoking, and hyperlipidaemia) were investigated using multivariate analysis. RESULTS: Of the 75 patients, 72 (96%) had both right and left retinal vascular images of sufficient quality for evaluation; 37 were classified as normal and 35 as Grade I, while no patient was Grade II. From a logistic regression multivariate analysis, the peak systolic velocity was the only significant factor correlating with retinal vascular findings, with an odds ratio of 3.34. In contrast, hypertension, age, cigarette smoking and hyperlipidaemia did not correlate significantly with the retinal vascular findings. Similarly, the retinal vascular finding was the only significant factor correlating with the peak systolic velocity of cavernosal blood flow (odds ratio 3.28) and again hypertension, age, cigarette smoking and hyperlipidaemia were not significant factors. CONCLUSIONS: These findings support the assumption that penile erectile function is one of the diseases of atherosclerosis, and emerges nearly simultaneously with retinal vascular disease. It is possible to predict penile arterial conditions in patients with ED from their retinal vascular findings. Thus, amydriatic fundoscopy, a simple practical examination, may be helpful for primary physicians in diagnosing and treating ED.     

Juxtapapillary retinal capillary hemangioma: A clinical and histopathological case report

Introduction and importanceJuxtapapillary retinal capillary hemangiomas (RCHs) are vascular hamartomas that occur adjacent to the optic disc. Juxtapapillary RCHs can be found as an isolated finding or in association with Von Hippel-Lindau (VHL) disease. VHL is a dominantly inherited disease that is characterized by multiple intracranial and retinal hemangioblastomas along with benign and malignant visceral tumors. RCH is a hallmark lesion in VHL and typically presents early in the disease.Case presentationWe present the clinical and histopathological findings of a 15-month-old child with juxtapapillary RCH associated with exudative retinal detachment and a family history of VHL. The child presented initially at a late stage and lost to follow-up twice then came back with a blind painful eye secondary to neovascular glaucoma necessitating enucleation.DiscussionAlthough juxtapapillary RCHs are benign, slowly growing tumors, they pose a serious threat to central vision secondary to posterior segment complications such as intraretinal and subretinal exudation, macular edema and exudative retinal detachment and anterior segment complications such neovascular glaucoma if left untreated.ConclusionJuxtapapillary RCHs are potentially blinding tumors if not treated in early stages given their close proximity to the optic nerve (ON) and macula.     

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

BACKGROUND: Autosomal-dominant forms of hematuria have been mostly related to mutations in the COL4A3/COL4A4 genes. Patients with thin basement membrane (BM) disease do not have extrarenal manifestations, while those with Alport syndrome often present with hearing loss, anterior lenticonus, and dot-and-fleck retinopathy. METHODS: We performed a phenotypic study and a candidate gene approach in a four-generation family presenting with autosomal-dominant hematuria associated with extrarenal manifestations. Renal biopsy was analyzed for determination of BM thickness and expression of chains of type IV collagen. Linkage to 18 candidate genes/loci was investigated using polymorphic microsatellite markers. RESULTS: In all affected patients, hematuria without proteinuria was associated with muscular contractures and retinal arterial tortuosities responsible for retinal hemorrhages. Cardiac arrhythmia, Raynaud phenomena, and brain MRI abnormalities were also observed. Despite the presence of red cells in tubule sections, no glomerular abnormalities were found by electron microscopy. Expression of type IV collagen chains and glomerular BM thickness was normal. We searched for a molecular defect affecting either BM or angiogenesis. Linkage analyses of genes encoding BM components (COL4A3/COL4A4, COL6A1, COL6A2, COL6A3, FBLN1), and angiogenic factors or their receptors (VHL, ANPT1, ANPT2, TIE, TEK, NOTCH2, NOTCH3, NOTCH4, DLL4, JAG1, JAG2) and of the facio-sapulo-humeral dystrophy and 3q21 loci failed to show segregation of the disease with those gene loci. CONCLUSION: We have identified a new inherited hematuria syndrome associated with retinal vessel tortuosities and contractures. We recommend performing a fundus examination in patients with familial hematuria and episodes of visual impairment, as well as a urinary analysis in patients with retinal arterial tortuosity or congenital muscular contractures.     

The evaluation of a home-based program for hands in patients with systemic sclerosis

Study DesignThis study used a quasi-experimental design where patients were evaluated before and after participation in the self-management program.IntroductionHands are commonly affected in systemic sclerosis (SSc). Strategies to maintain or improve hand function are indicated upon diagnosis and throughout the course of the disease.Purpose of the StudyThe purpose of this study was to develop and evaluate a home-based program for hands in patients with SSc.MethodsA home-based self-management program that consisted of concise instructions about SSc and hand exercises was developed and evaluated in a group of patients with SSc during 8 weeks. Primary outcome measures were hand pain (Visual Analogue Scale) and hand function (Cochin Hand Function Scale). Secondary outcome measures were disability (Scleroderma Health Assessment Questionnaire), finger motion (delta finger-to-palm), grip strength, tip and key pinch strength, Raynaud phenomenon and digital ulcers impact, quality of life (Short Form Health Survey). For comparisons between different times analysis of variance for repeated measures was used. To calculate the effect size (ES), the Cohen's test was performed. To evaluate skin moisturizing and warming habits before and after intervention, the McNemar test was used. Statistical significance was set at P ≤ .05.ResultsTwenty-two SSc patients (19 women: 3 men; 16 limited scleroderma: 6 diffuse scleroderma) completed the program. Significant improvements were noted for hand pain (3.97 vs 2.21, ES: 0.69), Cochin Hand Function Scale (19.24 vs 12.48, ES: 0.48), Scleroderma Health Assessment Questionnaire (0.95 vs 0.48, ES: 1.01), delta finger-to-palm (92.86 vs 106.33, ES: 0.40), grip strength (14.43 vs 19, ES: 0.58), tip pinch strength (2.49 vs 4.18, ES: 1.15), key pinch strength (4.01 vs 5.22, ES: 0.76), Raynaud phenomenon impact (0.94 vs 0.47, ES: 0.75), Short Form Health Survey–role physical (47.38 vs 60.14, ES: 0.61), physical functioning (34.62 vs 61.9, ES: 0.18), social functioning (60.71 vs 75.6, ES: 0.64), bodily pain (50.55 vs 63.38, ES: 0.58), vitality (45.95 vs 62, ES: 2.22), mental health (56.62 vs 72.38, ES: 0.84) moisturizing, and cold avoidance habits. Patients considered the program easy to follow with no adverse effects related to exercises.DiscussionWe developed a home based hand care program to be offered to SSc patients. Improvements in hand function, strength, disability, motion, and overall quality of life were independent of age, income, education level, disease duration, and skin score. Our findings support those of other studies that reported the benefits of hand exercises in SSc. Some study limitations include the lack of a control group, the small number of subjects and the short-time follow up.ConclusionsThis home-based program for patients with SSc improved hand pain, function, mobility, and strength at the end of 8 weeks. Patient adherence and sustained efficacy is still to be determined.