The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series

2021 ◽  
Author(s):  
Kyle S Conway ◽  
Fozia Ghafoor ◽  
Amy C Gottschalk ◽  
Joseph Laakman ◽  
Renee L Eigsti ◽  
...  
Keyword(s):  
Neuronal Migration ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Deletion Syndrome ◽  
Cerebellar Hypoplasia ◽  
Autopsy Case ◽  
Single Case Report ◽  
Renal Abnormalities

Abstract 1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the neuropathology of 1p36 deletion syndrome. The most extensive single case report described a spectrum of abnormalities, mostly related to abnormal neuronal migration. We report the largest published series of 1p36 autopsy cases, with an emphasis on neuropathologic findings. Our series consists of 3 patients: 2 infants (5-hours old and 23-days old) and 1 older child (11 years). Our patients showed abnormal cortical gyration together with a spectrum of neuronal migration abnormalities, including heterotopias and hippocampal abnormalities, as well as cerebellar hypoplasia. Our findings thus support the role of neuronal migration defects in the pathogenesis of cognitive defects in 1p36 deletion syndrome and broaden the reported neuropathologic spectrum of this common syndrome.

scholarly journals Two-Year Outcome of Aflibercept for the Treatment of Choroidal Neovascularization in Punctate Inner Choroidopathy

2019 ◽  
Vol 10 (1) ◽  
pp. 24-31 ◽  
Author(s):  
Luis Arrevola ◽  
María Almudena Acero ◽  
María Jesús Peral
Keyword(s):  
Visual Acuity ◽  
Case Report ◽  
Choroidal Neovascularization ◽  
Single Case ◽  
Case Reports ◽  
Oral Prednisone ◽  
Case Series ◽  
Punctate Inner Choroidopathy ◽  
Single Case Report ◽  
The Right

Punctate inner choroidopathy (PIC) is a rare inflammatory chorioretinopathy that predominantly affects young myopic women. Visual prognosis is generally good, but occurrence of choroidal neovascularization (CNV) is common and may be vision threatening. Case reports and short case series support the effectiveness of intravitreal anti-vascular endothelial growth factor (VEGF) agents (ranibizumab and bevacizumab) for CNV associated with PIC given their anti-angiogenic and anti-inflammatory effects. Evidence concerning aflibercept, a more recent intravitreal anti-VEGF, is limited to a single case report. In this case report, we illustrate the case of a 43-year-old myopic woman presenting with visual acuity loss and distortion in the right eye over the last 5 days in whom CNV associated with PIC was diagnosed. Treatment with 1 injection per month of intravitreal aflibercept for 2 months and full-dose oral prednisone for 1 week, being tapered afterwards, improved visual acuity and resolved CNV, with benefits lasting up to 24 months.

Bronchogenic Stress Cardiomyopathy: A Case Series

Cardiology ◽  
2015 ◽  
Vol 130 (2) ◽  
pp. 106-111 ◽  
Author(s):  
Adil Rajwani ◽  
Zulfiquar Adam ◽  
James Anthony Hall
Keyword(s):  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Stress Cardiomyopathy ◽  
Chronic Obstructive ◽  
High Dose ◽  
Atypical Presentation ◽  
Agonist Therapy ◽  
Obstructive Pulmonary Disease

Despite a growing awareness of stress (takotsubo) cardiomyopathy, the diversity in precipitants beyond emotional distress remains under-appreciated. Emerging data implicate a differential influence of precipitant type on the variable presentations of stress cardiomyopathy. We outline 5 cases of stress cardiomyopathy where the precipitant was an acute exacerbation of chronic obstructive pulmonary disease treated with high-dose bronchodilator therapy. In this setting, an atypical and insidious presentation of the stress cardiomyopathy was consistently observed that was difficult to distinguish from the acute airway exacerbation itself, with an absence of chest pain in particular. Scrutiny of published single-case reports reveals a similar atypical presentation; this supports the existence of a novel bronchogenic subgroup of stress cardiomyopathy. A key role of repeat ECG evaluation in distinguishing protracted but uncomplicated bronchospasm from bronchogenic stress cardiomyopathy is highlighted. Further data are now required to examine whether high-dose β-agonist therapy is implicated in this association.

scholarly journals Post-Infectious Guillain–Barré Syndrome Related to SARS-CoV-2 Infection: A Systematic Review

Life ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 167
Author(s):  
Pasquale Sansone ◽  
Luca Gregorio Giaccari ◽  
Caterina Aurilio ◽  
Francesco Coppolino ◽  
Valentina Esposito ◽  
...  
Keyword(s):  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Guillain Barre Syndrome ◽  
Response To Treatment ◽  
Comprehensive Overview ◽  
Fisher Syndrome ◽  
Immunomodulating Therapy ◽  
Guillain Barré Syndrome ◽  
Guillain Barré

Background. Guillain-Barré syndrome (GBS) is the most common cause of flaccid paralysis, with about 100,000 people developing the disorder every year worldwide. Recently, the incidence of GBS has increased during the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) epidemics. We reviewed the literature to give a comprehensive overview of the demographic characteristics, clinical features, diagnostic investigations, and outcome of SARS-CoV-2-related GBS patients. Methods. Embase, MEDLINE, Google Scholar, and Cochrane Central Trials Register were systematically searched on 24 September 2020 for studies reporting on GBS secondary to COVID-19. Results. We identified 63 articles; we included 32 studies in our review. A total of 41 GBS cases with a confirmed or probable COVID-19 infection were reported: 26 of them were single case reports and 6 case series. Published studies on SARS-CoV-2-related GBS typically report a classic sensorimotor type of GBS often with a demyelinating electrophysiological subtype. Miller Fisher syndrome was reported in a quarter of the cases. In 78.1% of the cases, the response to immunomodulating therapy is favourable. The disease course is frequently severe and about one-third of the patients with SARS-CoV-2-associated GBS requires mechanical ventilation and Intensive Care Unit (ICU) admission. Rarely the outcome is poor or even fatal (10.8% of the cases). Conclusion. Clinical presentation, course, response to treatment, and outcome are similar in SARS-CoV-2-associated GBS and GBS due to other triggers.

Analysis of Clinical, Imaging, and Pathologic Features of 36 Patients with Primary Intraspinal Primitive Neuroectodermal Tumors: A Case Series and Literature Review

2021 ◽  
Author(s):  
Xuefeng Wei ◽  
Xu Zhang ◽  
Zimu Song ◽  
Feng Wang
Keyword(s):  
Literature Review ◽  
Single Case ◽  
Case Reports ◽  
Case Series ◽  
Subtotal Resection ◽  
Study Cohort ◽  
Primitive Neuroectodermal Tumors ◽  
Pathologic Features ◽  
Neuroectodermal Tumors ◽  
The Mean

Abstract Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.

Suicide of a Tenor Amidst the Stage Setting of the Werther Opera's Death Scene

Crisis ◽  
2021 ◽  
Author(s):  
Manina Mestas ◽  
Florian Arendt
Keyword(s):  
Single Case ◽  
Causal Effects ◽  
Death Scene ◽  
Individual Level ◽  
Fictional Narrative ◽  
Single Case Report ◽  
Werther Effect ◽  
High Level ◽  
Identification Processes

Abstract. Background: Reporting on suicide can elicit an increase in suicides, a phenomenon termed the “Werther effect.” The name can be traced back to an alleged spike in suicides after the publication of Goethe's novel The Sorrows of Young Werther in 1774, in which the protagonist Werther dies by suicide. Aims: Acknowledging the importance and primacy of systematic ecological and individual-level studies, we provide a historical single-case report of the suicide of a “late arrival of the Werther epidemic,” as the death was headlined in a news report in 1927. Method: Archival research on tenor Paul Vidal's suicide was conducted. Results: Vidal reconstructed the scene of the final act of the opera Werther in his apartment and died by a gunshot, as did Werther. Limitations: Causal interpretations must be made with caution. Conclusion: Striking similarities between Werther's and Vidal's deaths support the idea of strong identification with the fictional narrative and suggest causal effects. Considering the repeated high level of immersiveness and the intense emotions of opera performances, it is likely that performing the role of Werther increases identification processes, contributing to detrimental effects. The lack of knowledge regarding the role of fictional suicide stories on artists' suicides is discussed.

scholarly journals Potential of Radiolabeled PSMA PET/CT or PET/MRI Diagnostic Procedures in Gliomas/Glioblastomas

2020 ◽  
Vol 13 (2) ◽  
pp. 94-98 ◽  
Author(s):  
Francesco Bertagna ◽  
Domenico Albano ◽  
Elisabetta Cerudelli ◽  
Maria Gazzilli ◽  
Raffaele Giubbini ◽  
...  
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Whole Body ◽  
Cochrane Library ◽  
Whole Body Imaging ◽  
Mri Imaging ◽  
Psma Pet ◽  
Pet Ct ◽  
Diagnostic Role

Background: Radiolabeled prostate-specific membrane antigen PSMA-based PET/CT or PET/MRI is a whole-body imaging technique currently performed for the detection of prostate cancer lesions. PSMA has been also demonstrated to be expressed by the neovasculature of many other solid tumors. Objective: The aim of this review is to evaluate the possible diagnostic role of radiolabeled PSMA PET/CT or PET/MRI in patients with gliomas and glioblastomas, by summarizing the available literature data. Methods: A comprehensive literature search of the PubMed/MEDLINE, Scopus, Embase and Cochrane library databases was conducted to find relevant published articles about the diagnostic performance of radiolabeled PSMA binding agents in PET/CT or PET/MRI imaging of patients with suspected gliomas or glioblastomas. Results: Seven case reports or case series and 3 studies enrolling more than 10 patients showed that gliomas and glioblastoma are PSMA-avid tumors. Conclusion: Radiolabeled PSMA imaging seems to be useful in analyzing glioma/glioblastoma. Further studies enrolling a wider population are needed to clarify the real clinical and diagnostic role of radiolabeled PSMA in this setting and its possible position in the diagnostic flow-chart.

scholarly journals CURRENT THERAPEUTIC OPTIONS FOR CORONAVIRUS DISEASE-2019 – A PHARMACOLOGICAL REVIEW

2020 ◽  
pp. 42-50
Author(s):  
SASMI MB ◽  
MARIA JOSE ◽  
PRAVEENLAL KUTTICHIRA
Keyword(s):  
Case Reports ◽  
Treatment Options ◽  
Case Series ◽  
Standard Of Care ◽  
Therapeutic Options ◽  
Cochrane Library ◽  
Global Public Health ◽  
Medical Subject Headings ◽  
Published Evidence

Objectives: Coronavirus pandemic is currently a global public health emergency. With expanding knowledge of the virus and the disease, new therapeutic targets are emerging widely. There is limited evidence about the use of different treatment options in coronavirus disease-2019 (COVID-19). This review aims to summarize the available evidence regarding therapeutic options in treating coronavirus infection. Methods: We searched PubMed, Google Scholar, and Cochrane library using pre-specified Medical Subject Headings terms about the role of therapeutic options in COVID-19 patients. Results: The majority of the published evidence is either case reports or small observational studies. Antimalarial like hydroxychloroquine reported equivocal results with five studies got positive results and five without any added benefit compared with standard of care. Lopinavir/ ritonavir monotherapy does not show any significant role except in combination with other antiviral drugs but encouraging results are emerging with remdesivir. Studies with favipiravir are inconclusive with some exhibit benefit and others not. Limited case series have shown that tocilizumab and convalescent plasma to be useful as adjuvant therapy in critically ill patients. Conclusion: There is currently no strong evidence for the efficacy of different therapeutic agents in the treatment of COVID-19. More data from ongoing and future trials will add more insight into the role of various drugs.

Subungual Schwannoma, a Rare Entity: A Case Report and Literature Review

2020 ◽  
Vol 25 (04) ◽  
pp. 508-512
Author(s):  
Jason D. Wink ◽  
Olatomide Familusi ◽  
Ines C. Lin
Keyword(s):  
Case Report ◽  
Literature Search ◽  
Glomus Tumor ◽  
Single Case ◽  
Case Reports ◽  
Ring Finger ◽  
Dominant Male ◽  
Rare Entity ◽  
Single Case Report ◽  
Slow Growing

We present a case of a 26-year-old right hand dominant male landscaper with a slow growing right ring finger subungual mass. MRI confirmed a 0.9 × 1.5 × 0.9 cm well circumscribed subungual mass believed to be consistent with a glomus tumor, although size and symptoms were not consistent with that diagnosis. The mass was completely excised and diagnosis of schwannoma was confirmed by H&E histology. A literature search was performed utilizing the term “subungual schwannoma.” Four case reports were found describing this diagnosis in the hand as well as a single case report describing it in the foot. In summary, this is a 26-year-old male who presents with a schwannoma in the unusual subungual location. Although rare, based on our case and the existing literature, subungual schwannomas should be included in the differential diagnosis of a slow growing subungual mass, particularly if symptoms and exam are inconsistent with more common etiologies.

scholarly journals P416 Results of the first paediatric randomised controlled trial of faecal microbiota transplant for ulcerative colitis

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S379-S380
Author(s):  
N Pai ◽  
J Popov ◽  
L Hill ◽  
E Hartung ◽  
K Grzywacz ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Clinical Response ◽  
Healthy Donor ◽  
Activity Index ◽  
Case Reports ◽  
Case Series ◽  
Faecal Microbiota ◽  
Open Label ◽  
Randomised Controlled

Abstract Background The role of faecal microbiota transplant (FMT) for the treatment of ulcerative colitis (UC) has been reported across 4 randomised-controlled trials (RCT) in adults. Promising data have emerged from small, open-label paediatric case series and case reports but a proper blinded, placebo-controlled RCT has not been described in children. We report results from the first multicentre RCT of FMT in paediatric UC patients, conducted over 36 months in Ontario and Quebec, Canada. Methods We enrolled 25 children, ages 4–17 years old with active UC across two tertiary IBD clinics. Patients had active inflammation and remained on stable doses of medication at entry. Blinded participants received enemas containing healthy donor stool (active) or normal saline (placebo), 2×/week for 6 weeks. Faecal calprotectin (fCal), C-reactive protein (CRP), and paediatric ulcerative colitis activity index (PUCAI) scores were compared between groups during intervention, and at four follow-up time points over 30 weeks. Donor and recipient stools were measured for 16s rRNA and metagenomics analyses. Results In intention-to-treat (ITT) analysis, FMT (n = 13) at 6 weeks was more likely to improve clinical response (OR 9.3, 95% CI [0.7, 122.6]), CRP (OR 4.7, 95% CI [0.8, 28.4]), and fCal (OR 13.3, 95% CI [1.1, 166.4]) from baseline compared with placebo (n = 12). FMT at 30 weeks was also more likely than placebo to improve clinical response, CRP, and fCal (Table 1). In ITT analysis of the open-label arm (n = 7), FMT at 6 weeks and 30 weeks decreased CRP (−42.9%, −28.6%), fCal (−28.6%, −42.9%), and PUCAI score (−14.3%, −42.9%) from baseline. Conclusion Serial FMT enemas containing healthy donor microbiota led to greater improvements in serum and stool inflammatory markers, and rates of clinical response, in paediatric patients with active UC compared with placebo. These improvements largely persisted beyond 6 months after final FMT treatment. This study offers the strongest preliminary evidence, from a blinded, placebo-controlled multicentre RCT for the role of FMT in the management of paediatric UC.

scholarly journals Ulipristal acetate (UPA) for fibroids–IVF outcomes following treatment with UPA after IVF failure: series of 2 case reports

2017 ◽  
Vol 6 (7) ◽  
pp. 3177 ◽  
Author(s):  
Ashish R Kale
Keyword(s):  
Case Reports ◽  
Uterine Fibroids ◽  
Case Series ◽  
Standard Of Care ◽  
Infertile Woman ◽  
Ulipristal Acetate ◽  
Uterine Tumors ◽  
Size Number ◽  
Ivf Failure

Uterine fibroids (also known as leiomyomas or myomas) are the most common form of benign uterine tumors. Fibroids are present in 5-10% of infertile patients, and may be the sole cause of infertility in 1-2.4%. The removal of fibroids by hysteroscopy and laparoscopy has now become the standard of care depending upon the size, number and location of fibroids in an infertile woman. Off lately, there is growing evidence of the crucial role of progesterone pathways in the pathophysiology of uterine fibroids due to the use of selective progesterone receptor modulators (SPRMs) such as ulipristal acetate (UPA). Here, we report a case series of 2 women, with fibroids, who were put on UPA prior to IVF. These women had at least one previous IVF failure. The pre and post UPA fibroid characteristics were compared to see the effect of the drug. IVF was done post 3 month UPA therapy. Both the women showed a drastic reduction in the fibroid size, increased distance from endometrial cavity, and successful post UPA IVF cycles. Safety of the drug has been proven in few recent trials, but the role of UPA in infertile women with fibroids, who have had previous IVF failure, has opened new horizons in this field.

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