Non-contrast computed tomography characteristics in a large cohort of cystinuria patients

Abstract Purpose Cystine stones are widely considered hard and difficult to treat. Hounsfield Units (HU) are used in other stone types to estimate ‘hardness’ and treatments based on that finding. Our objective was to report mean HU of cystine stones in vivo in a large case series of cystinuria patients and assess for differences in genotype. Methods A prospective case series of cystinuria patients referred to a specialist centre was analysed. CT imaging was assessed by two independent radiologists to determine in vivo attenuation of cystine calculi. Mean HU was compared for both cystinuria genes (SLC3A1 and SLC7A9) using an independent t-test. Results 164 adult cystinuric patients were identified (55% male), median age 43 years (range 18–80). Median follow up was 31 months (IQR 10–62). Genetic data available for 153/164 (93%) demonstrated 97 SLC3A1 (63%) and 55 (36%) SLC7A9 mutations (39 homozygous, 16 heterozygous) and one heterozygous for both SLC3A1/SLC7A9. 107 patients had CT images available demonstrating calculi. Median HU across the cohort was 633 (5th to 95th centile 328–780). There was no difference in mean HU between SLC3A1 and SLC7A9 genotypes (p = 0.68) or homo and heterozygous SLC7A9 (p = 0.70). Mean HU correlated with stone size (Pearson correlation coefficient = 0.51, p < 0.001). Conclusion In this large single centre cystinuria cohort, mean HU was low for stones that are difficult to treat. Calculi of < 800 HU should prompt consideration of a cystinuria diagnosis. Attenuation was not associated with genotype, and distinct ‘smooth’ and ‘rough’ stones were not observed. Calculi with HU > 1000 are unlikely pure cystine, and in a known cystinuric would suggest conversion to another stone type.

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Optimal Ki67 cut-off for luminal breast cancer prognostic evaluation: a large case series study with a long-term follow-up

Breast Cancer Research and Treatment ◽

10.1007/s10549-016-3817-9 ◽

2016 ◽

Vol 157 (2) ◽

pp. 363-371 ◽

Cited By ~ 53

Author(s):

Sara Bustreo ◽

Simona Osella-Abate ◽

Paola Cassoni ◽

Michela Donadio ◽

Mario Airoldi ◽

...

Keyword(s):

Case Series ◽

Luminal Breast Cancer ◽

Prognostic Evaluation ◽

Case Series Study ◽

Long Term Follow Up ◽

Large Case Series ◽

Series Study ◽

Large Case

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Hemangiopericytomas in the Spine

Neurosurgery ◽

10.1227/neu.0b013e3182752f50 ◽

2012 ◽

Vol 72 (1) ◽

pp. 16-24 ◽

Cited By ~ 19

Author(s):

Huan-guang Liu ◽

An-chao Yang ◽

Ning Chen ◽

Jun Yang ◽

Xiao-guang Qiu ◽

...

Keyword(s):

Survival Time ◽

Postoperative Radiotherapy ◽

Case Series ◽

Good Alternative ◽

Surgical Removal ◽

Low Grade ◽

Kaplan Meier ◽

Large Case Series ◽

Large Case

Abstract BACKGROUND: Intraspinal hemangiopericytoma (HPC) is a rare and malignant extra-axial tumor with a strong tendency to recur and metastasize. There is a paucity in the literature of large case series of patients with intraspinal HPCs. OBJECTIVE: We retrospectively analyzed the clinical radiological and histological features, classification, and treatment of 26 patients with HPCs in the spine. METHODS: Twenty-six patients with HPCs in the spine were treated at our institution between 1987 and 2010. Medical records were reviewed retrospectively to collect data on the clinical features, tumor morphology, surgical resection, recurrence, and follow-up. RESULTS: The 26 patients were predominantly male, and the mean age at diagnosis was 33.8 years. The intraspinal HPCs were divided into 3 types and 5 subtypes. Most of them involved the neighboring segments and/or caused bony erosion. All tumors were immunohistochemically positive for vimentin and negative for epithelial membrane antigen. All patients underwent at least 1 surgery, and most of them received postsurgical radiotherapy. The 5-year Kaplan-Meier rate of survival was 76%. The 5-year recurrence-free rate of survival was 29.4%. Only the tumor pathological grade was significantly associated with survival time and recurrence. CONCLUSION: High-grade tumors had a shorter survival time and recurred earlier than low-grade tumors. Surgical removal and postoperative radiotherapy are critical for the treatment of intraspinal HPCs. However, total resection may not necessary for these tumors. Stereotactic radiosurgery may be a good alternative to control the recurrent lesions.

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Prognostic significance of lymphatic invasion in lymph node-positive breast carcinoma: findings from a large case series with long-term follow-up using immunohistochemical endothelial marker

Modern Pathology ◽

10.1038/modpathol.2014.60 ◽

2014 ◽

Vol 27 (12) ◽

pp. 1568-1577 ◽

Cited By ~ 7

Author(s):

Rabab AA Mohammed ◽

Sindhu Menon ◽

Stewart G Martin ◽

Andrew R Green ◽

Emma C Paish ◽

...

Keyword(s):

Prognostic Significance ◽

Case Series ◽

Lymphatic Invasion ◽

Long Term Follow Up ◽

Large Case Series ◽

Lymph Node Positive ◽

Large Case ◽

Endothelial Marker

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Midterm results of radiocapitellar arthroplasty of the elbow

The Bone & Joint Journal ◽

10.1302/0301-620x.101b11.bjj-2019-0155.r2 ◽

2019 ◽

Vol 101-B (11) ◽

pp. 1362-1369 ◽

Cited By ~ 2

Author(s):

Giuseppe Giannicola ◽

Piergiorgio Calella ◽

Prospero Bigazzi ◽

Alberto Mantovani ◽

Paolo Spinello ◽

...

Keyword(s):

Radial Head ◽

Case Series ◽

Dash Score ◽

Mayo Elbow Performance Score ◽

Elbow Function ◽

Large Case Series ◽

Post Traumatic ◽

The Mean ◽

Large Case

Aims The aim of this study was to analyze the results of two radiocapitellar prostheses in a large case series followed prospectively, with medium-term follow-up. Patients and Methods A total of 31 patients with a mean age of 54 years (27 to 73) were analyzed; nine had primary osteoarthritis (OA) and 17 had post-traumatic OA, three had capitellar osteonecrosis, and two had a fracture. Overall, 17 Lateral Resurfacing Elbow (LRE) and 14 Uni-Elbow Radio-Capitellum Implant (UNI-E) arthroplasties were performed. Pre- and postoperative assessment involved the Mayo Elbow Performance Score (MEPS), the Quick Disabilities of the Arm, Shoulder and Hand (Q-DASH) score, and the modified American Shoulder Elbow Surgeons (m-ASES) score. Results The mean follow-up was 6.8 years (3.8 to 11.5). The mean MEPS, m-ASES, and Q-DASH scores improved significantly by 50 (p < 0.001), 55 (p < 0.001), and 54 points (p < 0.001), respectively, with no differences being detected between the implants. Preoperative pronation and supination were worse in patients in whom the UNI-E was used. Two patients with the UNI-E implant had asymptomatic evidence of gross loosening. Conclusion Radiocapitellar arthroplasty yielded a significant improvement in elbow function at a mean follow-up of 6.8 years, with a high implant survival rate when the LRE was used in patients with primary or post-traumatic OA, without radial head deformity, and when the UNI-E was used in patients in whom radial head excision was indicated. Cite this article: Bone Joint J 2019;101-B:1362–1369

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Detailed Clinical and Electrophysiological Illustration of a Patient with Sturge–Weber Syndrome Presenting with Prolonged Transient Neurological Symptoms

Journal of Neurosciences in Rural Practice ◽

10.4103/jnrp.jnrp_11_18 ◽

2018 ◽

Vol 09 (04) ◽

pp. 608-612

Author(s):

Halil Onder

Keyword(s):

Right Hemisphere ◽

Background Activity ◽

Recovery Period ◽

Case Series ◽

Neurological Deficits ◽

Weber Syndrome ◽

Sturge Weber Syndrome ◽

Large Case Series ◽

Large Case

ABSTRACTAlthough transient neurological deficits in Sturge–Weber syndrome (SWS) have been acknowledged for many years, the underlying pathogenesis still constitutes a major topic of discussion. Here, we present the case of a 10-year-old boy with SWS presenting with a progressive clinically mimicking right middle cerebral artery syndrome. Cranial magnetic resonance imaging showed unremarkable findings except extensive right hemisphere leptomeningeal angiomas. Antiepileptic drug (AED) treatments provided recovery of the patient, and concurrently recorded electroencephalography (EEG) revealed delta slowing of the lesional hemisphere in the acute period. However, slowing of the background activity extended to the contralateral hemisphere in subacute period, while ipsilateral background activity started to recover. In the 3rd week of follow-up on intensive AED treatments, the patient totally recovered as well as nearly the normalization of EEG was achieved. In this report, we focus on the dramatic revolution of EEG activity in both hemispheres during the recovery period. Based on this rare illustration and limited literature data, the author suggests some hypotheses regarding the pathophysiology of this mysterious manifestation (transient neurological deficit) in SWS. Future studies of large case series, including detailed paraclinical parameters and remarkably electrophysiological data, are warranted to clarify these arguments.

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Combined in vivo reflectance confocal microscopy and digital dermoscopy for follow up of patients at high risk of malignant melanoma: A prospective case series study

The Journal of Dermatology ◽

10.1111/1346-8138.13743 ◽

2017 ◽

Vol 44 (6) ◽

pp. 681-689 ◽

Cited By ~ 2

Author(s):

Uxúa Floristán Muruzábal ◽

Reyes Gamo Villegas ◽

Ana Pampín Franco ◽

Fernando Pinedo Moraleda ◽

Elia Pérez Fernández ◽

...

Keyword(s):

High Risk ◽

Malignant Melanoma ◽

Confocal Microscopy ◽

Case Series ◽

Case Series Study ◽

Prospective Case Series ◽

Series Study ◽

Digital Dermoscopy

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Various Application of Corneal Tattooing

10.21203/rs.2.92/v1 ◽

2018 ◽

Author(s):

Jinho Jeong ◽

Jonathan D Fay ◽

Jimmy K Lee ◽

Roy S Chuck ◽

Ji-won Kwon

Keyword(s):

Case Series ◽

Corneal Opacity ◽

Phthisis Bulbi ◽

Common Causes ◽

Corneal Opacities ◽

Large Case Series ◽

Cosmetic Outcomes ◽

The Mean ◽

Large Case

Abstract Background: To evaluate the efficacy of corneal tattooing in a large case series. Methods: The medical charts of 62 eyes of 62 patients who underwent corneal tattooing between March 2016 and August 2017 were retrospectively reviewed. The causes of opacity and various methods of corneal tattooing applied were analyzed. Results: Among our 62 patients, 38 were male and 24 female. Average age was 48.47±15.30 (range, 12-74)years old. The mean follow-up period was 23.19 ±2.34 (range, 19-27) months. The most common causes of corneal opacity were ocular trauma (33 eyes, 53.2%), prior retinal surgery (9 eyes, 14.5%), congenital etiologies (8 eyes, 12.9%) and measles (5 eyes, 8.0%). The most common associated ocular findings were strabismus (23eyes, 37.0%), phthisis bulbi (17 eyes, 27.4%) and band keratopathy (13 eyes, 20.9%). Cosmetic outcomes improved without serious complications in all cases. Conclusions: Corneal tattooing is a viable option with an expanding set of indications, such as discolored corneal tattoos, white pupil due to inoperable cataract with clear cornea, and dense corneal opacities in blind eyes. Elective corneal tattooing seems to be a viable and convenient method to improve cosmesis with minimal complications and high patient satisfaction.

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