The Heimann-Bielschowsky Phenomenon: A Retrospective Case Series and Literature Review

2019 ◽  
Vol 236 (04) ◽  
pp. 438-441
Author(s):  
Audrey Nguyen ◽  
François-Xavier Borruat
Keyword(s):  
Eye Movement ◽  
Medical Records ◽  
Visual Loss ◽  
Clinical Presentation ◽  
Case Series ◽  
International Literature ◽  
Retrospective Case ◽  
Severe Visual Loss ◽  
Pendular Nystagmus ◽  
The Subject

Abstract Background The Heimann-Bielschowsky phenomenon (HBP) is an unusual form of monocular vertical pendular nystagmus and is usually asymptomatic. It always occurs in an eye with longstanding, profound visual loss. Reports of HBP are few and HBP is probably underdiagnosed. Recognition of HBP could prevent unnecessary and potentially harmful investigations. The purpose of this study was to report a series of patients with HBP and to summarise the international literature on the subject in order to better define the clinical presentation of HBP. Patients and Methods The study was approved by the local ethics committee. Medical records of patients diagnosed with HBP and examined by one of us (F. X. B.) were retrieved. Eye movements were quantified, either from video or eye tracking recordings, in all patients. The international literature on HBP was reviewed using the keywords “Heimann-Bielschowsky” or “monocular nystagmus”. Results From 2007 to 2017, we retrieved seven patients with HBP. In the literature, we found only 8 publications, accounting for 66 cases. In both our cases and those from the literature, VA was worse in the eye with HBP and was usually ≤ 20/200. Visual loss was either congenital or acquired and resulted from a variety of aetiologies. The eye movement was strictly monocular, pendular, mostly vertical, but sometimes oblique. Characteristically, its frequency was irregular but low (0.2 to 2.6 Hz in our cases, 0.05 to 5 Hz in the literature) and its amplitude very variable (1 to 9° and 1.5 to 50°, respectively). Extraocular movements were always preserved. Conclusions HBP is a benign monocular eye movement disorder that is always secondary to severe visual loss. Being asymptomatic, HBP is still under-recognised and easily overlooked. Furthermore, both amplitude and frequency of HBP may be small and irregular. Recognition of HBP is mandatory in order to prevent costly, unnecessary, and potentially hazardous investigations, and caution is advised, as cataract surgery might be responsible for postoperative oscillopsia.

scholarly journals Cost Analysis With Use of Expandable Cage or Cement in Single level Thoracic Vertebrectomy in Metastasis

2020 ◽  
pp. 219256822097537
Author(s):  
Miki Katzir ◽  
Tarush Rustagi ◽  
Jeffrey Hatef ◽  
Ehud Mendel
Keyword(s):  
Electronic Medical Records ◽  
Medical Records ◽  
Metastatic Cancer ◽  
Case Series ◽  
Retrospective Case ◽  
Single Level ◽  
Expandable Cage ◽  
Kyphosis Correction ◽  
Survival Differences ◽  
Surgical Cost

Study Design: Retrospective case series. Objective: Patient with metastatic cancer frequently require spinal operations for neural decompression and stabilization, most commonly thoracic vertebrectomy with reconstruction. Objective of the study was to assess economic aspects associated with use of cement versus expandable cage in patients with single level thoracic metastatic disease. We also looked at the differences in the clinical, radiological, complications and survival differences to assess non-inferiority of PMMA over cages. Methods: The electronic medical records of patients undergoing single level thoracic vertebrectomy and reconstruction were reviewed. Two groups were made: PMMA and EC. Totals surgical cost, implant costs was analyzed. We also looked at the clinical/ radiological outcome, complication and survival analysis. Results: 96 patients were identified including 70 one-level resections. For 1-level surgeries, Implant costs for use of cement—$75 compared to $9000 for cages. Overall surgical cost was significantly less for PMMA compared to use of EC. No difference was seen in clinical outcome or complication was seen. We noticed significantly better kyphosis correction in the PMMA group. Conclusions: Polymethylmethacrylate cement offers significant cost advantage for reconstruction after thoracic vertebrectomy. It also allows for better kyphosis correction and comparable clinical outcomes and non-inferior to cages.

scholarly journals Smoking and Stroke in Appalachian Kentucky

2018 ◽  
pp. 1-4
Author(s):  
Dignan Mark ◽  
Dignan Mark ◽  
Kitzman Patrick ◽  
S Gutti Subhash ◽  
N Gutti Swathi ◽  
...  
Keyword(s):  
Medical Records ◽  
Case Series ◽  
Eastern Region ◽  
Retrospective Case ◽  
Series Design ◽  
Stroke Prevalence ◽  
Appalachian Kentucky ◽  
The Mean ◽  
Stroke Type ◽  
Stroke Belt

This project used a retrospective case series design to investigate factors associated with stroke in a rural area in Appalachian Kentucky. The south-eastern region of the U.S. is often referred to as the ‘stroke belt,’ and includes the Appalachian region of the state of Kentucky. Data were collected from medical records of patients from a neurology practice and regional hospital with a diagnosis of stroke from March 2012 through November 2015. Data were collected without personal identifiers and included demographic characteristics, stroke type, treatments received, and referrals for additional care including rehabilitation. Data from a total of 84 stroke cases diagnosed between March 2012 and November 2015 were included. Of the 84 cases, 46 (54.8%) were female and all but one was Caucasian. The distribution by race is consistent with the population of the region. The stroke cases ranged in age from 41 to 92 (M=66.3) and the age at stroke diagnosis ranged from 40 to 90 (M=65.7). Fourteen (16.7%) had evidence of a previous stroke at diagnosis. For smokers, the mean age at diagnosis was 62.7 for smokers while for non-smokers it was 67.5. The study reported smoking rates that were nearly three-times the national average, and the smokers in this study were found to have stroke onset approximately five-years earlier than non-smokers. The results from this case series support the need for further investigation on stroke prevalence and factors contributing to continued risk for stroke in Appalachia.

scholarly journals Childhood Pilomatrixoma: Case Series from a Single Center

2020 ◽  
Author(s):  
Begümhan Demir Gündoğan ◽  
Fatih Sağcan ◽  
Mehmet Alakaya ◽  
Ferah Tuncel Daloğlu ◽  
Elvan Çağlar Çıtak
Keyword(s):  
Differential Diagnosis ◽  
Medical Records ◽  
Clinical Presentation ◽  
Case Series ◽  
Neck Region ◽  
Head And Neck Region ◽  
Common Causes ◽  
Institutional Experience ◽  
History Of ◽  
Associated Conditions

INTRODUCTION: The aim of this study is to describe our institutional experience with pilomatrixoma in children, specifically examining its clinical presentation, associated conditions, radiological and pathological findings and attract attention to differential diagnosis for this tumor. METHODS: The medical records of 52 patients were reviewed retrospectively. RESULTS: There were a total of 62 tumors in 52 children. The median age at excision was 9.5 years old. Tumors were predominantly located in head and neck region (48.4%). One patient had a family history of pilomatrixoma. One patient had Turner Syndrome and one had Tuberous Sclerosis complex. Fifty-four lesions were examined by ultrasonography (USG). Pilomatrixoma was considered in the differential diagnosis in eight patients (15.3%) by a radiologist. DISCUSSION AND CONCLUSION: Pilomatrixoma is one of the most common causes of superficial masses in children. It should be kept in mind for differential diagnosis in children with superficial masses.

scholarly journals Nontyphoidal Salmonella Gastroenteritis in a Tertiary Children’s Hospital in Southern China: Characteristics and Dietary Considerations

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Lu Ren ◽  
Min Yang ◽  
Lanlan Geng ◽  
Peiyu Chen ◽  
Huan Chen ◽  
...  
Keyword(s):  
Lactose Intolerance ◽  
Clinical Presentation ◽  
Southern China ◽  
Case Series ◽  
Infants And Children ◽  
Food Allergies ◽  
Retrospective Case ◽  
Children's Hospital ◽  
Children’S Hospital ◽  
Bacterial Gastroenteritis

Background. Nontyphoidal Salmonella infection is a common cause for acute bacterial gastroenteritis in children in China. There have been no reports of the prevalence of lactose intolerance or food allergies in children with nontyphoidal Salmonella infection. The aim of this study was to characterize nontyphoidal Salmonella gastroenteritis in a tertiary children’s hospital and evaluate clinical presentation, lactose intolerance, and food allergies in children with prolonged nontyphoidal Salmonella gastroenteritis. Methods. A retrospective case-series analysis was carried out in a tertiary children’s hospital in Guangzhou, China. We included all infants and children who were diagnosed with nontyphoidal Salmonella gastroenteritis between 1 January 2014 and 31 December 2016. Patients’ clinical features, feeding patterns, laboratory tests, and treatment outcomes were reviewed. Results. A total of 142 infants and children were diagnosed with nontyphoidal Salmonella gastroenteritis. 52.1% of cases occurred in infants ≤ 12 months of age and the majority (89.4%) in children younger than 3 years old. The most common symptoms were diarrhea (100%), fever (62%), and vomiting (18.3%). Salmonella Typhimurium was the predominant serotype, accounting for 82.4%. 91.5% of patients were treated with antibiotics. Forty-one (28.9%) and 9 (6.3%) children improved with a lactose-free diet and hypoallergenic formula, respectively, when diarrhea persisted for more than a week. Conclusions. Salmonella Typhimurium was the predominant serotype. Most patients with nontyphoidal Salmonella gastroenteritis were younger than 3 years old. Lactose intolerance occurred frequently in children with nontyphoidal Salmonella gastroenteritis and dietary modification should be considered when diarrhea is persistent and prolonged.

scholarly journals COVID-19 Disease Leading to Chronic Spontaneous Urticaria Exacerbation: A Romanian Retrospective Study

Healthcare ◽  
2021 ◽  
Vol 9 (9) ◽  
pp. 1144
Author(s):  
Ioana Adriana Muntean ◽  
Irena Pintea ◽  
Ioana Corina Bocsan ◽  
Carmen Teodora Dobrican ◽  
Diana Deleanu
Keyword(s):  
Inflammatory Markers ◽  
Clinical Presentation ◽  
Significant Proportion ◽  
Case Series ◽  
Treated Group ◽  
Severe Form ◽  
Chronic Spontaneous Urticaria ◽  
Retrospective Case ◽  
Markers Of Inflammation ◽  
Urticaria Activity Score

(1) Background: The COVID-19 pandemic has resulted in the exacerbation of various chronic diseases. Due to the potential impact of SARS-CoV-2 on mast cells, we aimed to analyze the relevance of COVID-19 disease on chronic spontaneous urticaria (CSU) clinical presentation and biological profile. (2) Methods: This study is a retrospective case series of patients with CSU diagnosed and treated in the Allergy Department of the Professor Doctor Octavian Fodor RIGH, (Cluj-Napoca, Romania). Patients were assessed for disease activity and level of control with the weekly urticaria activity score and the visual analogue scale. Results were correlated with COVID-19 severity and with nonspecific markers of inflammation during and after the SARS-CoV-2 infection. (3) Results: SARS-CoV-2 impacted a significant proportion (33%) of the CSU patients, of which 71% developed a moderate-severe form of COVID-19. Most of the patients (68%) had moderate-severe forms of CSU and 65% took AH1 treatment (one dose, two-fold dose or four-fold dose). The rest of them (35%) received the second-line treatment (40.3% Omalizumab, 53% Prednisolone and 4.8% Cyclosporine). In Omalizumab treated group of UCS patients we observed that COVID-19 disease was not severe. We established a positive correlation between the severity of the infection and that of the CSU clinical presentation, with most bothersome symptoms of urticaria being experienced by moderate to severe COVID-19 CSU patients (47%). Inflammatory markers were positively correlated (p = 0.01) with a more severe clinical profile of CSU, in accordance with our hypothesis that the level of inflammation triggered by COVID-19 disease has a role in CSU exacerbation. The non-specific inflammatory markers, such as CRP, were positively associated with the UAS7 score (R2 = 0.363; p = 0.001). An increased rate of exacerbation of CSU was observed in moderate-severe COVID-19 infection. 4) Conclusions: COVID-19 disease can result in the exacerbation of chronic spontaneous urticaria, more likely in moderate to severe forms of infection.

Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience

2020 ◽  
pp. 019459982096662
Author(s):  
Josephine A. Czechowicz ◽  
Tania Benjamin ◽  
Randall A. Bly ◽  
Sheila N. Ganti ◽  
Daniel M. Balkin ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Treatment Duration ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Case Series ◽  
Female Gender ◽  
Airway Disease ◽  
Retrospective Case ◽  
Crucial Component ◽  
High Prevalence

Objective To describe the prevalence and clinical characteristics of airway findings in a multi-institutional cohort of PHACE patients. Study Design Multicenter retrospective case series. Setting Multidisciplinary vascular anomalies clinics at 2 institutions. Methods Data were collected from the electronic medical record, including clinical presentation, airway findings, treatment, and outcomes. Results Of 55 PHACE patients, 22 (40%) had airway hemangiomas. Patients with airway involvement were more commonly female ( P = .034, odds ratio [OR] 23, 95% confidence interval [CI] 1.3-410) and of Caucasian ethnicity ( P = .020, OR 5.3, 95% CI 1.3-21). Anatomically, patients with bilateral S3 involvement had higher rates of airway disease ( P = .0012, OR 15, 95% CI 2.9-77). Most patients with airway hemangiomas had stridor (68%). Of the patients managed in the propranolol era (2008 or later, n = 35), 14 had airway involvement. All 14 were treated with propranolol, whereas 13 (62%) of 21 nonairway patients were treated with propranolol. The average treatment duration was longer in the airway patients (22.1 vs 16.7 months). All patients who underwent tracheostomy (n = 4) did so before 2008. Conclusion Risk factors for airway involvement in PHACE include female gender, Caucasian ethnicity, and stridor. Since the widespread use of propranolol, fewer patients have required surgical management of their airway disease. Given the high prevalence of airway involvement even in patients without stridor, assessment of the airway is a crucial component of a comprehensive PHACE workup.

Osteochondritis Dissecans of the Humeral Trochlea: Characterization of a Rare Disorder Based on 28 Cases

2019 ◽  
Vol 47 (9) ◽  
pp. 2167-2173 ◽  
Author(s):  
Kemble K. Wang ◽  
Sarah D. Bixby ◽  
Donald S. Bae
Keyword(s):  
Osteochondritis Dissecans ◽  
Medical Records ◽  
Clinical Presentation ◽  
Case Series ◽  
Ossification Center ◽  
Trochlear Groove ◽  
Level Of Evidence ◽  
Elbow Motion

Background: Osteochondritis dissecans (OCD) of the humeral trochlea is very rare. It may cause pain, mechanical symptoms, and loss of elbow motion, typically in the adolescent athlete. However, little published information is available regarding this condition. Purpose: To describe the clinical presentation, radiographic features, and prognosis of trochlear OCD. Study Design: Case series; Level of evidence, 4. Methods: Over a 10-year period, 28 patients presented to a tertiary pediatric hospital with trochlear OCD. Medical records and imaging were analyzed to characterize presentation, lesions appearances, and outcomes. Results: Mean ± SD age at presentation was 13.4 ± 1.6 years, and 13 of the 28 patients were male. The most common presenting symptom was pain (93%), followed by crepitus (54%). Evidence of trochlear OCD could be seen on initial radiographs in 94% of cases but was commonly missed. Coexisting capitellar OCD lesions were the most common associated abnormalities seen on magnetic resonance imaging (21%). Investigators noted 2 predominant patterns: “typical” trochlear OCD lesions (89%) were located on the lateral crista of the trochlea, 3.1 ± 4.4 mm lateral to the apex of the trochlear groove. This location corresponded to the medial tip of the capitellar epiphyseal ossification center and was not actually on the trochlear ossification center. “Atypical” trochlear OCD lesions (11%) were located more posteromedially. Trochlear OCD lesions in 4 elbows were managed surgically, while the remainder were managed nonoperatively. At mean ± SD follow-up of 13 ± 8 months, 12 patients (43%) were asymptomatic. A further 5 patients had ongoing crepitus but no pain (18%), and 4 patients (14%) underwent surgical treatment for their trochlear OCD (osteochondral fixation, n = 1; drilling/curettage, n = 3); 3 of the 4 patients experienced some improvement in pain. Conclusion: Although rare, trochlear OCD can cause considerable elbow problems. Clinicians should be aware of this differential diagnosis. Plain radiographs should be carefully scrutinized for subtle signs of trochlear OCD, particularly in the repetitive or overhead athlete with elbow pain. Although most patients’ symptoms will improve with activity modification, some may require surgery.

scholarly journals Craniofacial abnormalities among patients with Edwards Syndrome

2013 ◽  
Vol 31 (3) ◽  
pp. 293-298 ◽  
Author(s):  
Rafael Fabiano M. Rosa ◽  
Rosana Cardoso M. Rosa ◽  
Marina Boff Lorenzen ◽  
Paulo Ricardo G. Zen ◽  
Carla Graziadio ◽  
...  
Keyword(s):  
Medical Records ◽  
Clinical Presentation ◽  
Case Series ◽  
Goldenhar Syndrome ◽  
Clinical Genetics ◽  
Craniofacial Abnormalities ◽  
Orofacial Clefts ◽  
Karyotypic Analysis ◽  
Edwards Syndrome ◽  
Reference Hospital

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

scholarly journals Canine small clear cell/T-zone lymphoma: clinical presentation and outcome in a retrospective case series

2015 ◽  
Vol 14 ◽  
pp. 117-126 ◽  
Author(s):  
V. Martini ◽  
L. Marconato ◽  
A. Poggi ◽  
F. Riondato ◽  
L. Aresu ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clear Cell ◽  
Case Series ◽  
Retrospective Case ◽  
Retrospective Case Series

Characteristics of inpatients admitted to National Asylum of Leganés in the early twentieth century (1900–1931)

2016 ◽  
Vol 33 (S1) ◽  
pp. S628-S628
Author(s):  
R. Candela Ramírez ◽  
P. Vázquez de la Torre Escalera ◽  
A. Conseglieri Gámez
Keyword(s):  
Twentieth Century ◽  
Medical Records ◽  
Case Series ◽  
Clinical Activity ◽  
Psychiatric Institute ◽  
Retrospective Case ◽  
Historical Archives ◽  
Case Series Study ◽  
Competing Interest ◽  
French Tradition

IntroductionLeganés Psychiatric Hospital has been the subject of several studies about its institutional history, clinical activity and demography of its institutionalized population. The first decades of the twentieth century are the less explored years; however, important events for the development and establishment of the discipline of psychiatry happened in Spain during this period.Objectives/aimsTo describe the sociodemographic and hospitalization characteristics of the patients who were admitted to Leganés National Asylum between 1900 and 1931.MethodsThis is a retrospective case series study. We reviewed medical records found in the Historical Archives of Psychiatric Institute Germain (n = 1043) of inpatients admitted between 1900 and 1931. We analyzed sociodemographic and hospitalization related variables of medical records with SPSS v21. We consultedbibliography, such as asylum documents and diverse primary and secondary literature.ResultsMost inpatients were male, single, with an average age of 38 years, came from home and were admitted as fee-paying boarders. Circa 64% of them remained in the institution until death and the average stay was 7.92 years.ConclusionsEven though the Leganés Asylum was born amidst debate on the asylum model, it did not meet the expectations. Among other reasons, it presented serious architectural deficiencies and was unable to classify inpatients according to the French tradition (agitated, dirty, quiet) or to separate populations, such as minors or criminal inpatients, thus becoming a charity institution asylum instead of a therapeutic mental hospital.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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