scholarly journals CEREBELLAR ATROPHY WITH LONG-TERM PHENYTOIN (PHT) USE: CASE REPORT

2017 ◽  
Vol 16 (3) ◽  
pp. 123-125
Author(s):  
Jamir P. Rissardo ◽  
◽  
Ana L.F. Caprara ◽  
Juliana O.F. Silveira ◽  
◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Cerebellar Atrophy ◽  
Clinical History ◽  
Cranial Computed Tomography ◽  
Cerebellar Dysfunction ◽  
Ataxic Gait ◽  
History Of ◽  
Normal Speech ◽  
Cerebellar Symptoms

Cerebellar atrophy can be found with long-term phenytoin (PHT) use or acute phenytoin intoxication. PHT may cause cerebellar symptoms, such as nystagmus, diplopia, dysarthria and ataxia. Clinical manifestations may be persistent. We report a case of a 41-year-old male who presented with cerebellar dysfunction and cerebellar atrophy after longterm phenytoin use. He had ataxic gait, preserved strength, commuting deep reflexes, dysmetria, dysdiadochocinesia, scanning speech and somnolence. Cranial computed tomography revealed enlargement of interfollicular cerebrospinal fluid spaces in cerebellum and also a slight enlargement of the fourth ventricle, suggesting signs of cerebellar volumetric reduction. PHT was withdrawn. Six months later, he presented improvement in his condition; he had atypical gait, mild dysmetria, diadochokinesia and normal speech. In conclusion, clinicians should be vigilant with patients on phenytoin. If the patient has cerebellar signs with a correspondent clinical history of phenytoin intoxication CT scan should be helpful as an initial cerebellar assessment.

scholarly journals The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

2020 ◽  
Author(s):  
Julia Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  
Keyword(s):  
Cohort Study ◽  
Natural History ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Clinical Care ◽  
Clinical Manifestations ◽  
Routine Clinical Care ◽  
Safety Outcomes ◽  
History Of

Abstract Background: Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively.Results: The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality of life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion: This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.

scholarly journals The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Julia B. Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  
Keyword(s):  
Cohort Study ◽  
Natural History ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Clinical Care ◽  
Clinical Manifestations ◽  
Routine Clinical Care ◽  
Safety Outcomes ◽  
History Of

Abstract Background Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively. Results The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality-of-life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.

scholarly journals Phenotypic and treatment outcome data on SUNCT and SUNA, including a randomised placebo-controlled trial

Cephalalgia ◽  
2017 ◽  
Vol 38 (9) ◽  
pp. 1554-1563 ◽  
Author(s):  
Hsing-Yu Weng ◽  
Anna S Cohen ◽  
Christoph Schankin ◽  
Peter J Goadsby
Keyword(s):  
Controlled Trial ◽  
Clinical Manifestations ◽  
Primary Headache ◽  
Outcome Data ◽  
Short Term ◽  
Autonomic Symptoms ◽  
Primary Headache Disorders ◽  
Cranial Autonomic Symptoms ◽  
History Of

Background Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) are two rare headache syndromes classified broadly as Trigeminal Autonomic Cephalalgias (TACs). Methods Here, 65 SUNCT (37 males) and 37 SUNA (18 males) patients were studied to describe their clinical manifestations and responses to treatment. Results Pain was almost always unilateral and side-locked. There were three types of attack: Single stabs, stab groups, and a saw-tooth pattern, with some patients experiencing a mixture of two types. As to cranial autonomic symptoms, SUNA patients mainly had lacrimation (41%) and ptosis (40%). Most cases of the two syndromes had attack triggers, and the most common triggers were touching, chewing, or eating for SUNCT, and chewing/eating and touching for SUNA. More than half of each group had a personal or family history of migraine that resulted in more likely photophobia, phonophobia and persistent pain between attacks. For short-term prevention, both syndromes were highly responsive to intravenous lidocaine by infusion; for long-term prevention, lamotrigine and topiramate were effective for SUNCT, and lamotrigine and gabapentin were efficacious in preventing SUNA attacks. A randomized placebo-controlled cross-over trial of topiramate in SUNCT using an N-of-1 design demonstrated it to be an effective treatment in line with clinical experience. Conclusions SUNCT and SUNA are rare primary headache disorders that are distinct and very often tractable to medical therapy.

M1897 Long-Term Clinical History of Patients with Severe Reflux Esophagitis: A Four-Month to Eighteen-Year Follow-Up Study

2009 ◽  
Vol 136 (5) ◽  
pp. A-441
Author(s):  
Noriaki Manabe ◽  
Ken Haruma ◽  
Jiro Hata ◽  
Hiroshi Imamura ◽  
Tomoari Kamada ◽  
...  
Keyword(s):  
Reflux Esophagitis ◽  
Clinical History ◽  
Follow Up Study ◽  
History Of

scholarly journals The SPARKLE registry: a multicenter, multinational, noninterventional, prospective cohort registry study in patients with alpha-mannosidosis

2019 ◽  
Author(s):  
Julia Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  
Keyword(s):  
Natural History ◽  
Prospective Cohort ◽  
Clinical Care ◽  
Clinical Manifestations ◽  
Registry Study ◽  
Enzyme Replacement ◽  
Routine Clinical Care ◽  
Safety Outcomes ◽  
History Of

Abstract Background Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. Intracellular accumulation of mannose-rich oligosaccharides leads to a continuum of various heterogeneous clinical symptoms. Velmanase alfa (Lamzede®) is a human recombinant alpha-mannosidase approved in Europe in 2018 as the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild-to-moderate alpha-mannosidosis. SPARKLE is an alpha-mannosidosis registry study intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis and is a post-approval commitment to European marketing authorization. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively. Results SPARKLE is a post-authorization safety and efficacy registry designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting in 2020. Patients will be followed for up to 15 years. Safety and effectiveness outcomes under routine clinical care will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality of life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.

scholarly journals Sump Syndrome: A Rare Long-Term Complication of Choledochoduodenostomy

2017 ◽  
Vol 11 (2) ◽  
pp. 428-433 ◽  
Author(s):  
Hrudya Abraham ◽  
Sajan Thomas ◽  
Amit Srivastava
Keyword(s):  
Bile Duct ◽  
Common Bile Duct ◽  
Endoscopic Retrograde Cholangiopancreatography ◽  
Clinical Manifestations ◽  
Rare Condition ◽  
Endoscopic Retrograde ◽  
Distal Common Bile Duct ◽  
History Of ◽  
The Common

Biliary sump syndrome is a rare condition. It is seen as a rare long-term complication in patients with a history of a side-to-side choledochoduodenostomy. In the era before endoscopic retrograde cholangiopancreatography, side-to-side choledochoduodenostomy was a common surgical procedure for the management of biliary obstruction. In the setting of a side-to-side choledochoduodenostomy, the bile does not drain through the distal common bile duct anymore. Therefore, the part of the common bile duct distal from the choledochoduodenostomy anastomosis consequently transforms into a poorly drained reservoir, making this so-called “sump” prone to accumulation of debris. These patients are prone to cholangitis. We present a 64-year-old man with a history of side-to-side choledochoduodenostomy who presented with manifestations of cholangitis. An endoscopic retrograde cholangiopancreatography confirmed a diagnosis of sump syndrome. The etiology, clinical manifestations, and treatment of biliary sump syndrome are discussed in this article.

scholarly journals EXPERIMENTAL SYPHILIS IN THE RABBIT

1921 ◽  
Vol 33 (4) ◽  
pp. 525-538 ◽  
Author(s):  
Wade H. Brown ◽  
Louise Pearce ◽  
William D. Witherbee
Keyword(s):  
Congenital Syphilis ◽  
Clinical Manifestations ◽  
Clinical History ◽  
Pathological Process ◽  
Pathological Examination ◽  
Bone Lesions ◽  
Bony Union ◽  
Experimental Conditions ◽  
History Of ◽  
Osseous System

A systematic study was made of the affections of bone, cartilage, tendons, and synovial membranes which occurred in a series of rabbits with generalized syphilis. Localized infection of this group of structures was found to be of very frequent occurrence. The parts involved were, in the order of their frequency, the facial and cranial bones and cartilages, the bones, tendons, and joints of the feet and legs, the cervical and caudal vertebræ, the ribs, and the sternum. These infections often gave rise to characteristic manifestations of disease which could be detected without difficulty by inspection or palpation of the part. In many instances, however, clinical manifestations were so slight that the presence of lesions could be detected only by radiographic or pathological examination. Detailed descriptions of various clinical types of disease were given and the clinical manifestations correlated with the pathological process. It was pointed out that bone lesions exhibited a decided predilection for certain exposed bony prominences, for lines of bony union, and for epiphyseal lines in particular. A study of the clinical history of bone lesions brought out the fact that they were among the earliest of the generalized forms of disease; they tended to pursue a comparatively rapid course, and relapse was never observed. Especial emphasis was laid upon three aspects of the experimental infection: the analogy existing between certain forms of the animal and human affections, the relation of syphilis of the osseous system to other evidences of disease, and the occurrence of obscure bone lesions. In this connection, it was pointed out that the nasal and epiphyseal lesions of the rabbit presented a striking analogy to those of congenital syphilis in man. It was also pointed out that syphilis of the osseous system occupied a definite position in the scheme of defensive reactions such that lesions of these tissues might be favored or inhibited according to the experimental conditions employed. Finally, the frequency with which infections occurred which were not accompanied by sufficiently distinctive signs even to suggest the possibility of their existence was interpreted as evidence that some cases of latent or obscure infection in man might find their explanation in the presence of a similar group of affections.

scholarly journals Unusual Clinical Manifestations of Chronic Discoid Lupus Erythematosus

2014 ◽  
Vol 6 (2) ◽  
pp. 69-72
Author(s):  
Ljubka Miteva ◽  
Valentina Broshtilova ◽  
Robert A. Schwartz
Keyword(s):  
Physical Examination ◽  
Alopecia Areata ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Clinical History ◽  
Discoid Lupus Erythematosus ◽  
Histopathological Analysis ◽  
Scarring Alopecia ◽  
History Of ◽  
Scalp Lesions

Abstract A 22-year-old woman with a 3-year history of discoid lupus erythematosus presented with two circumscribed patches of non-scarring alopecia, clinically simulating alopecia areata. Histopathological analysis of scalp lesions revealed discoid lupus erythematosus. Based on the clinical history, physical examination, and histological and immunological findings, we distinguished our case from a true combination of alopecia areata and typical chronic discoid lupus erythematosus.

scholarly journals Oral Manifestations of Celiac Disease and Wheat Allergy: Report of Three Cases and Review of Literature

2018 ◽  
pp. 33-45
Author(s):  
Yadira V. Boza Oreamuno DDS, MSc ◽  
María F. Rugama Flores BSND
Keyword(s):  
Celiac Disease ◽  
Systemic Disease ◽  
Clinical Manifestations ◽  
Abdominal Distension ◽  
Clinical History ◽  
Recurrent Abdominal Pain ◽  
Oral Manifestations ◽  
Wheat Allergy ◽  
Immune Mediated ◽  
History Of

Celiac Disease (CD) is an immune-mediated systemic disease, caused by gluten and related prolamins, in genetically susceptible individuals. It is characterized by gluten-dependent clinical manifestations, CD-specific antibodies, HLA DQ2 or DQ8 haplotypes, and enteropathy. Most patients are asymptomatic or with mild manifestations. It mainly affects the gastrointestinal system causing symptoms and signs such as diarrhea, recurrent abdominal pain and abdominal distension; also extradigestive manifestations. Patients with CD may have oral manifestations that include recurrent aphthous stomatitis (RAS), enamel hypoplasia, atrophic glossitis, among others. The diagnosis of CD is based on clinical history, serology, endoscopy and histology. There are other entities that should be differentiated from CD, such as non-celiac gluten sensitivity and wheat allergy. The aim of this study is to present three patients with a history of RAS and other clinical manifestations associated with the early diagnosis of CD and food allergy.

Outcomes of spontaneous regression of retinopathy of prematurity

2021 ◽  
pp. 167-169
Author(s):  
O.M. Zнukova ◽  
◽  
A.V. Tereshchenko ◽  
I.G. Trifanenkova ◽  
M.S. Tereshchenkova ◽  
...  
Keyword(s):  
Retinopathy Of Prematurity ◽  
Spontaneous Regression ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Ophthalmological Examination ◽  
History Of ◽  
Varying Length ◽  
Long Term Observation ◽  
Timely Treatment

Purpose. To analyze postnatal outcomes in children with spontaneous ROP regression. Material and methods. The study included 37 children (74 eyes) with spontaneous ROP regression. Gestational age was ranged from 23 to 32 weeks, body weight - from 493 to 1660 g at birth. Depending on the observation period, the children were divided into 2 age groups: 1 - from 1 month to 4 years old - 31 children (62 eyes), 2 - from 9 to 13 years old - 6 children (12 eyes). The diagnostics included standard ophthalmological examinations and additional methods. Results. In the first group, upon reaching the age of 1-year, complete retinal vascularization was observed in 26 (83%) cases (52 eyes). 5 children (10 eyes) had a narrow retinal avascular zone in the temporal segment. In the second group, in cases of postponed 3-rd stage of ROP, more severe disorders in the peripheral parts of the retina were revealed: compaction of the posterior hyaloid membrane with fixation and zones of traction retinoschisis of varying length. In the first years of life, all patients with ROP had a history of predominantly hyperopic refraction (94%). However, myopic refraction prevailed (82%) in the second group of children reaching school age. Conclusion. Considering the significant variability of the clinical manifestations of the cicatricial stage of ROP with spontaneous regression, long-term observation and a comprehensive ophthalmological examination of this group of patients are necessary for timely treatment. Key words: retinopathy of prematurity, spontaneous regression, cicatricial phase.

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