scholarly journals Case Series of Brittle Cornea Syndrome

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Taher Eleiwa ◽  
Mariam Raheem ◽  
Nimesh A. Patel ◽  
Audina M. Berrocal ◽  
Alana Grajewski ◽  
...  
Keyword(s):  
Late Onset ◽  
Treatment Options ◽  
Case Series ◽  
Autosomal Recessive Disorder ◽  
Diagnostic Features ◽  
Brittle Cornea Syndrome ◽  
Patch Graft ◽  
The Right ◽  
Corneal Rupture

Purpose. This case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome. Observations. Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture. Glaucoma was controlled medically. Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis. After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft. Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture. Glaucoma in both eyes was controlled medically. Case 3 was the 2-year-old sister of the 2nd case. She had a pachymetry of 238 μm OD and 254 μm OS. In the 3 cases, parents were instructed to take protective measures for both eyes and to continue with follow-up visits. Also, they were instructed to have regular screenings for late-onset hearing loss, dental abnormalities, and bone deformities. Conclusions. Long-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.

Midcarpal instability

2015 ◽  
Vol 41 (1) ◽  
pp. 86-93 ◽  
Author(s):  
D. G. Hargreaves
Keyword(s):  
Surgical Treatment ◽  
Treatment Options ◽  
Case Series ◽  
Definite Diagnosis ◽  
Stress Tests ◽  
Functional Instability ◽  
Painful Wrist ◽  
Relative Rarity ◽  
Passive Stress

Midcarpal instability is a collective term for a number of conditions where the instability of the wrist is predominantly between the proximal and distal carpal rows. It has been regarded as relatively rare and infrequently requires surgical treatment. Palmar midcarpal instability is the most commonly found type of midcarpal instability and can be responsible for causing a clunking and painful wrist. The diagnosis is made on clinical grounds using the midcarpal instability provocative tests. Standard imaging and arthroscopic inspection do not usually confirm a definite diagnosis, but are important in excluding other pathologies. The classification and staging has been described using the extent of palmar translocation of the distal carpal row, which is elicited on passive stress tests. As this is a functional instability, it may be that a functional staging description might be better, and a proposed scheme is described. Treatment options including partial wrist fusions, tenodesis stabilizations and arthroscopic capsular shrinkage have been described in small case series with limited follow-up. There are no comparative series or randomized studies because of the relative rarity of this condition.

scholarly journals Case Series of Bedside Renal Cell Carcinoma Detected by Point-of-Care Ultrasound in the Ambulatory Setting

2020 ◽  
Vol 11 ◽  
pp. 215013272091627
Author(s):  
Gayatri Setia ◽  
Ilan Kedan
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Point Of Care ◽  
Case Series ◽  
Smoking History ◽  
Point Of Care Ultrasound ◽  
Gross Hematuria ◽  
The Right

Background: Kidney and renal pelvic cancer was the sixth most common cancer in men and 10th most common in women in the United States in 2018. Renal cell carcinoma (RCC), accounts for 86% of malignancies of the kidney. RCC patients are often asymptomatic; up to 25-30% have metastases at diagnosis. Few present with the triad of gross hematuria, flank pain, and abdominal mass. In RCC patients, 36% had 2 symptoms of the triad, and 60% had gross hematuria as 1 symptom. Point-of-care ultrasound (POCUS) offers a way to identify clinically meaningful anatomic abnormalities. This case series presents 3 patients in whom routine POCUS examination performed in an outpatient cardiology clinic found asymptomatic renal masses, resulting in surgical resection and cure of early-stage RCCs. Case Presentation: Patient 1: 54-year-old female with hypertension (HTN). Two solid masses were identified with POCUS in the right kidney. Patient 2: 63-year-old male with coronary artery disease (CAD) and HTN was seen at an 8-month follow-up visit. A 6-cm mass was identified in the left kidney. Patient 3: 69-year-old male with CAD, HTN, and smoking history seen at 5-month follow-up visit. A 3-cm mass in the right kidney was identified. Conclusions: Incorporating POCUS into the routine physical examination in the ambulatory care setting may improve rates of detection and increase the pretest probability of identifying renal pathology with formal imaging studies. With minimal clinician training, earlier and increased detection of asymptomatic RCC may result in improved patient survival.

Early Outcomes of 3D Printed Total Talus Arthroplasty

2019 ◽  
Vol 13 (5) ◽  
pp. 372-377 ◽  
Author(s):  
Daniel J. Scott ◽  
John Steele ◽  
Amanda Fletcher ◽  
Selene G. Parekh
Keyword(s):  
Treatment Option ◽  
Treatment Options ◽  
Case Series ◽  
Level Of Evidence ◽  
Ankle Motion ◽  
Motion Data ◽  
Number Of Patients ◽  
3D Printed ◽  
Radiographic Alignment

Background. Patients with talar avascular necrosis (AVN) have limited treatment options to manage their symptoms. Historically, surgical options have been limited and can leave patients with little ankle motion and have high failure rates. The use of custom 3D printed total talar replacements (TTRs) has arisen as a treatment option for these patients, possibly allowing better preservation of hindfoot motion. We hypothesized that patients undergoing TTR will demonstrate a statistically significant improvement in Foot and Ankle Outcome Score (FAOS) at 1 year after surgery. Methods. We retrospectively reviewed 15 patients who underwent a TTR over a 2-year period. Patient outcomes were reviewed, including age, sex, comorbidities, etiology of talar pathology, number and type of prior surgeries, radiographic alignment, FAOS and Visual Analog Scale (VAS) score, and range of motion. Data analysis was performed with Student t-tests and multivariate regression. Results. FAOSs and VAS scores showed statistically significant improvements postoperatively as compared with preoperative scores. There was a statistically significant decrease in VAS pain scores from 7.0 preoperatively to 3.6 (P < .001). Average follow-up was 12.8 months. With the number of patients available, there was no statistically significant change in radiographic alignment parameters postoperatively as compared with preoperatively (P values ranged from .225 to .617). Conclusion. Our hypothesis that these patients show statistically significant improvements in FAOSs at 1 year was confirmed. TTR represents an exciting treatment option for patients with talar AVN, though longer-term follow-up is needed. Level of Evidence: Level IV: Case series

scholarly journals Case Series on Perforator Aneurysm: Endovascular Stenting—A Safe Strategy

2017 ◽  
Vol 01 (03) ◽  
pp. 179-183 ◽  
Author(s):  
Chandra Sahu ◽  
Ashish Ashpilaya
Keyword(s):  
Case Series ◽  
Treated Group ◽  
Vascular Lesions ◽  
World Federation ◽  
Imaging Data ◽  
Anterior Circulation ◽  
Fisher Grade ◽  
Complete Thrombosis ◽  
The Right

AbstractPerforator aneurysms are rare vascular lesions that are infrequently reported in literature, and because of difficult anatomic approach, their treatment and management pose challenges. Given the rarity of these aneurysms, the natural history and ideal approach to treatment has not been established. The authors retrospectively analyzed six patients, age ranging from 16 to 75 years with ruptured perforator aneurysm, four of posterior circulation and two of anterior circulation including clinical characteristics, imaging data, treatment regimen, and outcome. All but two patients presented with the World Federation of Neurosurgical Societies grades I to III and Fisher grade 2 or 3 subarachnoid hemorrhage, and the other two presented with intracerebral bleed in the right gangliocapsular region. Four patients were managed conservatively whereas two basilar perforator aneurysms were treated with endovascular stent. At the last follow-up, the endovascularly treated group of patients demonstrated complete thrombosis of aneurysm with preservation of perforators, and the conservatively managed group showed spontaneous occlusion in one patient, whereas three were lost to follow-up and ultimate outcome remains unknown. The authors report single-center hospital-based experience in six patients, which adds to the scarce published literature that addresses the limited understanding of the natural course and consolidating safe endovascular management of this entity.

scholarly journals Uterus unicornis and pregnancy in two feline littermates

2017 ◽  
Vol 3 (2) ◽  
pp. 205511691774361
Author(s):  
Wilson C Brookshire ◽  
Jacob Shivley ◽  
Kimberly Woodruff ◽  
Jim Cooley
Keyword(s):  
Renal Agenesis ◽  
Case Series ◽  
Abdominal Ultrasound ◽  
Female Offspring ◽  
Uterine Horn ◽  
Normal Limits ◽  
Histopathologic Diagnosis ◽  
Underlying Causes ◽  
The Right

Case series summary A queen, tom and four 1-year-old female offspring presented for routine neuter. Two of the littermates (cats 1 and 2) were diagnosed with a uterine abnormality during surgery. The left uterine horn of both cats appeared as a thin, solid, cord-like structure, whereas the right uterine horn of both cats appeared to have intermittent bulges consistent with pregnancy. The two other littermates, queen and tom were reproductively normal. The uteruses of the affected cats were nearly identical with a gross and histopathologic diagnosis of uterus unicornis with concurrent pregnancy. Ovaries were present, bilaterally. An oviduct was present only on the single normally developed and pregnant uterine horn in both cats. At a postoperative follow-up evaluation, abdominal ultrasound was performed on the two cats with uterine abnormalities. Cat 1 was ultrasonographically within normal limits. Cat 2 was diagnosed with ipsilateral renal agenesis on the same side as the absent uterine horn. Relevance and novel information The complexity of uterus unicornis and renal aplasia is demonstrated by this unique presentation of five related cats for ovariohysterectomy. This report raises questions regarding the genetic, environmental, hormonal or other underlying causes of this anatomic abnormality in cats that may spur additional research. This is the first publication describing uterus unicornis in gravid feline littermates, with one of the cats having ipsilateral renal agenesis. This is also the first publication to describe oviduct agenesis on the affected uterine horn in feline uterus unicornis.

scholarly journals Therapeutic Challenges for Elderly Patients with Primary Hyperparathyroidism

2019 ◽  
Vol 2019 ◽  
pp. 1-3 ◽  
Author(s):  
Kenneth Sluis ◽  
Hyon Kim ◽  
Yuling He ◽  
Beatrice Wong ◽  
Xiangbing Wang
Keyword(s):  
Primary Hyperparathyroidism ◽  
Chart Review ◽  
Treatment Options ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Long Term Stability ◽  
Feasible Option ◽  
One Year

Primary hyperparathyroidism (PHPT) predominantly affects older adults, and parathyroidectomy can achieve definitive cure in symptomatic PHPT and asymptomatic meeting surgical criteria. As the population continues to age, the treatment of PHPT in octogenarians and nonagenarians presents a clinical conundrum. This case series presents the management of eight patients 85 years of age and older diagnosed with PHPT. A retrospective chart review of patients diagnosed with primary hyperparathyroidism were identified in a single institution. Those patients 85 years of age and older who were followed up for over one year were included in this case series. The literature on treatment options for this age group was also reviewed. Eight cases of PHPT patients aged 88 ± 2.5 years old with a follow-up average of 5.6 ± 4.4 years were reported in our case series. Six PHPT patients were medically managed and two PHPT patients underwent parathyroid resection. Most of the medically managed PHPT patients except for one had long-term stability of disease for over five years. The treatment of PHPT diagnosed in patients over 85 years of age presents a clinical challenge for which there is no clear consensus guideline. Our case series supports that medical therapy is a feasible option for PHPT patients over 85 years old.

scholarly journals Flow diversion and microvascular plug occlusion for the treatment of a complex unruptured basilar/superior cerebellar artery aneurysm: case report

2019 ◽  
Vol 130 (6) ◽  
pp. 1978-1983 ◽  
Author(s):  
Jan-Karl Burkhardt ◽  
Howard A. Riina ◽  
Omar Tanweer ◽  
Peyman Shirani ◽  
Eytan Raz ◽  
...  
Keyword(s):  
Case Report ◽  
Treatment Options ◽  
Artery Aneurysm ◽  
Mass Effect ◽  
Superior Cerebellar Artery ◽  
Cerebellar Artery ◽  
Endovascular Approach ◽  
Aneurysm Occlusion ◽  
The Right

The authors present the unusual case of a complex unruptured basilar artery terminus (BAT) aneurysm in a 42-year-old symptomatic female patient presenting with symptoms of mass effect. Due to the fusiform incorporation of both the BAT and left superior cerebellar artery (SCA) origin, simple surgical or endovascular treatment options were not feasible in this case. A 2-staged (combined deconstructive/reconstructive) procedure was successfully performed: first occluding the left SCA with a Pipeline embolization device (PED) coupled to a microvascular plug (MVP) in the absence of antiplatelet coverage, followed by reconstruction of the BAT by deploying a second PED from the right SCA into the basilar trunk. Six-month follow-up angiography confirmed uneventful aneurysm occlusion. The patient recovered well from her neurological symptoms. This case report illustrates the successful use of a combined staged deconstructive/reconstructive endovascular approach utilizing 2 endoluminal tools, PED and MVP, to reconstruct the BAT and occlude a complex aneurysm.

scholarly journals Brittle Cornea Syndrome: Case Report with Novel Mutation in thePRDM5Gene and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Georgia Avgitidou ◽  
Sebastian Siebelmann ◽  
Bjoern Bachmann ◽  
Juergen Kohlhase ◽  
Ludwig M. Heindl ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Findings ◽  
Corneal Scarring ◽  
Brittle Cornea Syndrome ◽  
Exon 1 ◽  
Corneal Hydrops ◽  
The Right ◽  
Almost All ◽  
Pr Domain ◽  
Corneal Rupture

A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.

scholarly journals Absence of dementia in late-onset schizophrenia: a one year follow-up of a Brazilian case series

2006 ◽  
Vol 64 (4) ◽  
pp. 946-949 ◽  
Author(s):  
Jerson Laks ◽  
Leonardo F. Fontenelle ◽  
Adriana Chalita ◽  
Mauro V. Mendlowicz
Keyword(s):  
Activities Of Daily Living ◽  
Daily Living ◽  
Negative Symptoms ◽  
Late Onset ◽  
Case Series ◽  
Developed Countries ◽  
End Point ◽  
One Year ◽  
State Examination

BACKGROUND: Cognitive deficits of late-onset schizophrenia (LOS) patients have been reported as stable, although some prospective studies show that a sub-group develop a significant cognitive decline. Data on LOS from developing countries are scarce. OBJECTIVE: To evaluate the cognitive performance of Brazilian patients with LOS over the course of one year. METHOD: Thirteen LOS patients were evaluated at baseline and after one year with the Mini-Mental State Examination (MMSE), the CAMCOG, the Positive and Negative Symptoms Scale, the Pfeffer’s Activities of Daily Living (ADL), and the Neuropsychiatric Inventory (NPI). RESULTS: Cognition and activities of daily living remained stable over the course of one year [baseline MMSE= 21.31 (4.87) and CAMCOG=80.31 (16.68); end-point MMSE=20.77 (3.86) and CAMCOG=82.92 (14.42) (Z=-0.831; p=0.40); baseline ADL=4.31 (5.65); end-point ADL= 5.92 (3.86) (Z=-0.831; p=0.40)]; end-point NPI=10.54 (10.69) (Z=-0.737; p=0.46]. CONCLUSION: Like patients from developed countries, Brazilian patients with LOS do not seem develop dementia, at least over the course of one year.

scholarly journals The Effect of Mineral Trioxide Aggregate on the Periapical Tissues after Unintentional Extrusion beyond the Apical Foramen

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Pradnya S. Nagmode ◽  
Archana B. Satpute ◽  
Ankit V. Patel ◽  
Pushpak L. Ladhe
Keyword(s):  
Detrimental Effect ◽  
Treatment Options ◽  
Case Series ◽  
Mineral Trioxide Aggregate ◽  
Single Step ◽  
Periapical Lesion ◽  
Conservative Dentistry ◽  
One Step ◽  
Open Apices

Introduction. Single-step apexification procedures using mineral trioxide aggregate (MTA) have been reported as favorable treatment options for teeth with an open apex, posing greater benefits compared to the other available medicaments. However, controlled apical placement of MTA is a challenging procedure to perform using orthograde approach. This case series describes the outcome of the unintentional extrusion of MTA into periradicular tissues during apexification, in three separate cases.Methods. Three adult patients reported to the Department of Conservative Dentistry and Endodontics for the management of maxillary incisors with open apices. After isolation, conventional access, and cleaning and shaping procedures, one-step MTA apexification was performed. On subsequent radiographs, a considerable amount of MTA was seen to be extruded in all the three cases.Results. During follow-up examination the teeth were seen to be asymptomatic in all cases and radiographically demonstrated repair of the periapical lesion.Conclusion. The results of these cases suggest that extrusion of MTA into the periapical tissues does not cause any detrimental effect, which could be attributed to the biologic properties of MTA.

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