scholarly journals Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1383 ◽  
Author(s):  
Karolina M. Stepien ◽  
Elżbieta Ciara ◽  
Aleksandra Jezela-Stanek
Keyword(s):  
Neurodegenerative Disorder ◽  
Respiratory Infections ◽  
Clinical Manifestations ◽  
Case Series ◽  
Genetic Profile ◽  
Nonsense Mutations ◽  
Pathogenic Variants ◽  
One Stop ◽  
Stop Loss

Fucosidosis is a neurodegenerative disorder which progresses inexorably. Clinical features include coarse facial features, growth retardation, recurrent upper respiratory infections, dysostosis multiplex, and angiokeratoma corporis diffusum. Fucosidosis is caused by mutations in the FUCA1 gene resulting in α-L-fucosidase deficiency. Only 36 pathogenic variants in the FUCA1 gene are related to fucosidosis. Most of them are missense/nonsense substitutions; six missense and 11 nonsense mutations. Among deletions there were eight small and five gross changes. So far, only three splice site variants have been described—one small deletion, one complete deletion and one stop-loss mutation. The disease has a significant clinical variability, the cause of which is not well understood. The genotype–phenotype correlation has not been well defined. This review describes the genetic profile and clinical manifestations of fucosidosis in pediatric and adult cases.

scholarly journals Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

2020 ◽  
Vol 21 (12) ◽  
pp. 4564 ◽  
Author(s):  
Aleksandra Jezela-Stanek ◽  
Elżbieta Ciara ◽  
Karolina M. Stepien
Keyword(s):  
Transient Receptor Potential ◽  
Clinical Manifestations ◽  
Case Series ◽  
Receptor Potential ◽  
Transient Receptor Potential Channel ◽  
Facial Dysmorphism ◽  
Genetic Profile ◽  
Lysosomal Storage ◽  
Psychomotor Delay ◽  
Severe Intellectual Disability

Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype–phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases.

scholarly journals Nicotinic Cholinergic System and COVID-19: Identification of a Potentially Crucial Snake Toxin-Like Sequence in the SARS-CoV-2 Spike Glycoprotein

2020 ◽  
Author(s):  
Konstantinos Farsalinos ◽  
Elias Eliopoulos ◽  
Socrates Tzartos ◽  
Konstantinos Poulas
Keyword(s):  
Cholinergic System ◽  
Acetylcholine Receptors ◽  
Respiratory Infections ◽  
Clinical Manifestations ◽  
Case Series ◽  
Spike Glycoprotein ◽  
Venom Toxin ◽  
Snake Venom Toxin ◽  
Low Prevalence ◽  
Viral Cell Entry

Smoking is a risk factor for respiratory infections and there is reasonable concern that it may affect COVID-19 susceptibility and severity. Recent studies have focused on the interaction between smoking (and nicotine) and ACE2 expression, suggesting that ACE2 up-regulation could contribute to enhanced viral cell entry. However, case series have shown that there is an unexpectedly low prevalence of smoking among hospitalized COVID-19 cases. Since early April, we were the first to hypothesize that dysfunction of the nicotinic cholinergic system (NCS) may be implicated in the pathophysiology of severe COVID-19. We recently reported that many of the clinical manifestations of severe COVID-19 could be explained by dysregulation of the NCS. In this study, we present an amino acid sequence in the receptor binding domain of the SARS-CoV-2 Spike glycoprotein which is homologous to a sequence of a snake venom toxin. We present the 3D structural location of this “toxin-like” sequence on the Spike Glycoprotein. These findings suggest that SARS-CoV-2 could potentially interact with acetylcholine receptors causing dysregulation of the NCS and the cholinergic anti-inflammatory pathway.

scholarly journals Characterization of cognitive impairment in adult polyglucosan body disease

2022 ◽  
Author(s):  
Paul Theo Zebhauser ◽  
Isabell Cordts ◽  
Holger Hengel ◽  
Bernhard Haslinger ◽  
Paul Lingor ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Memory Impairment ◽  
Neurodegenerative Disorder ◽  
Axonal Neuropathy ◽  
Case Series ◽  
Cognitive Symptoms ◽  
Pathogenic Variants ◽  
Neuropsychological Profile ◽  
Polyglucosan Body ◽  
Adult Polyglucosan Body Disease

AbstractAdult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype is characterized by neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy. Additionally, cognitive symptoms and dementia have been reported in APBD but have not been studied systematically. Using exome sequencing, we identified two previously unreported bi-allelic missense GBE1 variants in a patient with severe memory impairment along with the typical non-cognitive symptoms. We were able to confirm a reduction of GBE1 activity in blood lymphocytes. To characterize the neuropsychological profile of patients suffering from APBD, we conducted a systematic review of cognitive impairment in this rare disease. Analysis of 24 cases and case series (in total 58 patients) showed that executive deficits and memory impairment are the most common cognitive symptoms in APBD.

Combination Chlorambucil/Firocoxib or Chlorambucil/Prednisolone Treatment for Inflammatory Colorectal Polyps in Miniature Dachshunds

2018 ◽  
Vol 54 (3) ◽  
pp. 161-166 ◽  
Author(s):  
Akira Murakami ◽  
Ayami Shibahashi ◽  
Ryota Iwasaki ◽  
Mifumi Kawabe ◽  
Mami Murakami ◽  
...  
Keyword(s):  
Adverse Events ◽  
Alternative Treatment ◽  
Clinical Manifestations ◽  
Case Series ◽  
Colorectal Polyps ◽  
Retrospective Case ◽  
Prednisolone Treatment ◽  
Immune Mediated ◽  
Causative Relationship

ABSTRACT Inflammatory colorectal polyps (ICRP), which are more commonly recognized in miniature dachshunds, are thought to represent an immune-mediated disease. This retrospective case series describes six miniature dachshunds with refractory ICRP, who were treated with chlorambucil (CLB) combined with firocoxib or prednisolone. Improvement in clinical manifestations was seen in five of the six dogs by the end of the study period; four were treated with CLB/firocoxib and one with CLB/prednisolone. One dog had nonregenerative anemia after 23 mo of treatment with CLB, but whether there was a causative relationship was unclear. No severe adverse events were observed during treatment in the remaining five dogs. CLB in combination with firocoxib or prednisolone appears to be an effective alternative treatment for ICRP in dogs. Further studies are needed to confirm the effectiveness and long-term complications of CLB treatment for ICRP in dogs.

scholarly journals CLINICAL MANIFESTATIONS AND OUTCOMES OF RETINAL HEMORRHAGES IN INFANTS: A CASE SERIES

2018 ◽  
Vol 17 (2) ◽  
pp. 133-137
Author(s):  
Ludmila V. Kogoleva ◽  
Elena N. Demchenko
Keyword(s):  
Functional Outcomes ◽  
Imaging System ◽  
Clinical Manifestations ◽  
Case Series ◽  
Premature Baby ◽  
Long Term Effects ◽  
Retinal Hemorrhages ◽  
Clinical Forms ◽  
Time Frames

Background. Retinal hemorrhages in infants are frequent pathologies, but their causes, clinical forms and functional outcomes are poorly studied. The study of hemorrhage localization in the eye structure, time frames of their resolution, and the long-term effects that may affect the development of vision is of particular interest.Objective. Our aim was to analyze clinical forms, time frames of resolution and long-term clinical and functional outcomes of retinal hemorrhages in infants.Methods. All children with retinal hemorrhages, who applied to a premature baby room in the MRI of ED n. a. Helmholtz at the age from 3 weeks to 3 months for 5 years (2011–2015), were examined using indirect ophthalmoscopy. In case of extensive lesions, the process dynamics was controlled by a pediatric digital retinal imaging system. Long-term clinical and functional outcomes of retinal hemorrhages were studied using ultrasound examination and spectral optical coherence tomography.Results. Fundus hemorrhages were revealed in 108 (5.9%) of 1,825 infants on 142 eyes (34 children had bilateral hemorrhages). Hemorrhages were more frequent in children delivered vaginally (79 children, 73.2%), were unilateral (74 children, 63.5%), pre-retinal (108 eyes, 76.1%), of central localization (119 eyes, 83.8%). The time frames of hemorrhage resolution in 53 children (49.1%) were more than one month. Long-term outcomes of retinal hemorrhages were studied in 22 children (33 eyes) at the age of 2–5 years. Residual changes in the structure of the neuroepithelium and vitreoretinal interface with a decrement in visual acuity were noted in 7 children (9 eyes).Conclusion. Retinal hemorrhages of newborns are characterized by clinical polymorphism, different time frames of resolution and outcomes, which requires a case follow-up.

scholarly journals High Incidence of Sporadic Creutzfeldt-Jakob Disease in Slovenia in 2015: A Case Series

2018 ◽  
Vol 8 (1) ◽  
pp. 42-50
Author(s):  
Tomaž Rus ◽  
Bogdan Lorber ◽  
Maja Trošt ◽  
Srečko Dobrecovič ◽  
Nuška Čakš Jager ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Case Series ◽  
Progressive Dementia ◽  
High Incidence ◽  
Jakob Disease ◽  
Sporadic Cases ◽  
Rapid Cognitive Decline ◽  
Clinical Diagnostic Criteria ◽  
Sporadic Cjd

Background: Creutzfeldt-Jakob disease (CJD) is a rare fatal neurodegenerative disorder presenting with rapid cognitive decline and additional signs. The clinical characteristics of an increasing number of sporadic CJD (sCJD) patients admitted to the Ljubljana University Medical Centre are presented as well as the incidence of sCJD in Slovenia in 2015 compared to previous years. Methods: We investigated patients presenting with rapidly progressive dementia and at least one additional sign. The diagnosis was made based on clinical diagnostic criteria and an autopsy was performed in all cases. Data on definite sCJD cases in Slovenia since 1999 were obtained and its incidence was calculated. Results: Eight patients with definite sCJD died in 2015 in Slovenia (incidence: 3.89 cases per million). The long-term incidence 1999 was 1.67 per million. Conclusions: The incidence of sCJD was considerably higher in 2015. It reflects fluctuations in sporadic cases of this rare disease. The rising trend might indicate a previous underestimation and better recognition of the disease.

scholarly journals Coronavirus Disease-2019 (COVID-19): Course and Long-term Consequences

2021 ◽  
Vol 7 (9) ◽  
pp. 271-291
Author(s):  
I. Murkamilov ◽  
K. Aitbaev ◽  
Zh. Murkamilova ◽  
I. Kudaibergenova ◽  
T. Maanaev ◽  
...  
Keyword(s):  
Virus Disease ◽  
Clinical Manifestations ◽  
Case Series ◽  
Cardiovascular Complications ◽  
Multiple Organ ◽  
Lung Damage ◽  
Social Burden ◽  
Acute Myocardial Injury ◽  
Long Term Consequences

A new strain of coronavirus — SARS-CoV-2 (Severe Acute Respiratory Syndrome CorOnaVirus-2) has caused an increase in the number of cases and high mortality worldwide. In patients with coronavirus disease 2019 (COVID-19, Corona Virus Disease 19), in addition to lung damage, there is a high risk of developing multiple organ failure. Concomitant cardiovascular diseases are independent risk factors for the development of severe forms of COVID-19. Acute COVID-19 is manifested by polysegmental pneumonia, pulmonary edema, sepsis, atrial or ventricular fibrillation, acute myocardial injury, myocarditis, pericardial effusion, cardiac tamponade, and various thromboembolic disorders. COVID-19 can provoke chronic damage to the cardiovascular, nephro- and cerebrovascular systems, which worsen the patient's life prognosis. In persons who have undergone COVID-19, in the future, an increase in various cardiovascular complications, disorders of carbohydrate and purine metabolism, etc. can be expected. The article discusses the course and long-term consequences of Coronavirus Disease 2019 (COVID-19) based on the presented case series. The above observations of cases of coronavirus disease (COVID-19) demonstrate a variety of its clinical manifestations and outcomes, in which, along with damage to the lungs, there are also lesions of the cardiovascular, endocrine and urinary systems. Based on the accumulated experience in the management of patients, it is proposed to distinguish between acute (from 1 to 4 weeks), subacute (from 4 to 12 weeks) and chronic (from 12 weeks or more) forms. The use of this approach in real clinical practice facilitates the work of doctors in the outpatient-polyclinic stage of observation, reducing the social burden of the disease, routing patients, as well as stratification of persons suffering from COVID-19 for the development of pulmonary fibrosis.

scholarly journals Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients With RAG1/2 Mutations: First Cases Series From Mexico and Description of Two Novel Mutations.

2021 ◽  
Author(s):  
Mario Ernesto Cruz-Munoz ◽  
Saul Oswaldo Lugo-Reyes ◽  
Nina Pastor ◽  
Edith González-Serrano ◽  
Marco Yamazaki-Nakashimada ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Severe Combined Immunodeficiency ◽  
Clinical Manifestations ◽  
Case Series ◽  
Missense Mutations ◽  
Antigen Receptors ◽  
Novel Mutations ◽  
Nonsense Mutations ◽  
First Case ◽  
Immunological Phenotype

Abstract Mutations in Recombinase Activating Genes 1 and 2 (RAG1/2) results in human severe combined immunodeficiency (SCID). The products of these genes, are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Nonsense mutations in RAG1 or RAG2 are associated with the most severe clinical and immunological phenotypes, whereas patients with missense mutations may develop leaky SCID or Omenn syndrome (OS). A group of non-previously recognized clinical phenotypes associated with granulomata and/or autoimmunity have been described as a consequence of hypomorphic mutations. Here we present six patients from unrelated families with missense variants in RAG1 or RAG2. Phenotypes observed in these patients ranged from OS to severe mycobacterial infections and granulomatous disease. Moreover, we report the first evidence of two previously unidentified variants as causative of pathological manifestations associated to immunodeficiency. This study represents the first case series of RAG1 or RAG2 deficient patients from Mexico and Latin America.

Force Plate Analysis of Dogs with Bilateral Hip Dysplasia Treated with a Unilateral Triple Pelvic Osteotomy: A Long-term Review of Cases

1998 ◽  
Vol 11 (02) ◽  
pp. 85-93 ◽  
Author(s):  
Joanne R. Cockshutt ◽  
H. Dobson ◽  
C. W. Miller ◽  
D. L. Holmberg ◽  
Connie L. Taves ◽  
...  
Keyword(s):  
Gait Analysis ◽  
Hip Dysplasia ◽  
Weight Bearing ◽  
Force Plate ◽  
Case Series ◽  
Pelvic Osteotomy ◽  
Vertical Force ◽  
Long Term Outcome ◽  
Case Series Study

SummaryA retrospective case series study was done to determine the long-term outcome of operations upon dogs treated for canine hip dysplasia by means of a triple pelvic osteotomy (TPO). Twentyfour dogs with bilateral hip dysplasia, that received a unilateral TPO between January 1988 and June 1995, were re-examined at the Ontario Veterinary College. The assessment included physical, orthopedic and lameness examinations, standard blood work, pelvic radiographs and force plate gait analysis. They were compared to bilaterally dysplastic dogs that had not been treated, and also to normal dogs. Force plate data analysis demonstrated a significant increase in peak vertical force (PVF) and mean vertical force over stance (MVF) in the limb that underwent surgical correction by means of a TPO, when compared to the unoperated hip. It was determined that performing a unilateral TPO on a young dysplastic dog resulted in greater forces and weight bearing being projected through the TPO corrected limb when compared to the unoperated limb.Dogs with bilateral hip dysplasia treated with a unilateral triple pelvic osteotomy (TPO) were assessed by force plate gait analysis, radiographs and orthopedic examination. There was a significant increase in hip Norberg angles over time, although degenerative changes did progress. Limbs that had been operated upon had significantly greater peak and mean ground reaction forces than limbs that had not received an operation.

Mechanical failure of the Mobi-C implant for artificial cervical disc replacement: report of 4 cases

2020 ◽  
Vol 33 (6) ◽  
pp. 727-733
Author(s):  
Jasmine A. T. DiCesare ◽  
Alexander M. Tucker ◽  
Irene Say ◽  
Kunal Patel ◽  
Todd H. Lanman ◽  
...  
Keyword(s):  
Cervical Spondylosis ◽  
Case Series ◽  
Dynamic Imaging ◽  
Disc Replacement ◽  
Cervical Disc ◽  
Artificial Disc ◽  
Younger Patients ◽  
Cervical Disc Replacement ◽  
Short And Long Term

Cervical spondylosis is one of the most commonly treated conditions in neurosurgery. Increasingly, cervical disc replacement (CDR) has become an alternative to traditional arthrodesis, particularly when treating younger patients. Thus, surgeons continue to gain a greater understanding of short- and long-term complications of arthroplasty. Here, the authors present a series of 4 patients initially treated with Mobi-C artificial disc implants who developed postoperative neck pain. Dynamic imaging revealed segmental kyphosis at the level of the implant. All implants were locked in the flexion position, and all patients required reoperation. This is the first reported case series of symptomatic segmental kyphosis after CDR.

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