scholarly journals Clinical Relevance of Methylenetetrahydrofolate Reductase Genetic Testing in Autism: A Case Report of Successful Clinical Outcome

Cureus ◽  
2021 ◽  
Author(s):  
Fadila . ◽  
Praveen Suman ◽  
Praveen Kumar ◽  
Md Faraz Omair
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Clinical Outcome ◽  
Clinical Relevance ◽  
Methylenetetrahydrofolate Reductase ◽  
Successful Clinical Outcome

scholarly journals Treatment of Invasive Cervical Resorption With Sandwich Technique Using Mineral Trioxide Aggregate: A Case Report

2012 ◽  
Vol 37 (1) ◽  
pp. 98-106 ◽  
Author(s):  
L Kqiku ◽  
KA Ebeleseder ◽  
K Glockner
Keyword(s):  
Case Report ◽  
Clinical Outcome ◽  
Clinical Relevance ◽  
Composite Resin ◽  
Glass Ionomer Cement ◽  
Mineral Trioxide Aggregate ◽  
Glass Ionomer ◽  
Sandwich Technique ◽  
Ionomer Cement

Clinical Relevance MTA combined with glass ionomer cement and composite resin in a “sandwich technique” showed a favourable clinical outcome for treatment of invasive cervical resorption lesions.

Managing the Transition to Edentulousness Using Partial Transitional Dentures for First Time Prosthodontic Patients: Addressing Unrealistic Expectations – A Case Report

2017 ◽  
Vol 1 (1) ◽  
Keyword(s):  
Case Report ◽  
Treatment Outcomes ◽  
Treatment Planning ◽  
Clinical Relevance ◽  
Treatment Plan ◽  
Sequential Treatment ◽  
Aesthetic Result ◽  
Abutment Teeth ◽  
First Time ◽  
Unrealistic Expectations

Aim: The aim of this report is to describe the management of a prosthodontic patient expressing unrealistic expectations with respect to the transition to edentulousness. Objectives: To outline (1) the diagnosis and explicit expectations of the patient on presentation (2) considerations made during treatment planning to address the wishes of the first time prosthodontic patient (3) a sequential treatment plan utilizing transitional partial removable dentures to manage the change to edentulousness (4) functional and aesthetic result achieved. Results: Delivery of immediate removable partial dentures retaining key abutment teeth in upper and lower arches was a viable prosthodontic solution in the transition to edentulousness of a patient expecting unrealistic treatment outcomes. Conclusions: Addressing impractical expectations and devising a treatment plan amenable to both clinician and patient is difficult. Strategies to manage these wishes in prosthodontic dentistry can include transitional partial dentures. Clinical relevance: Practitioners who encounter similar situations may consider this report valuable.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

2021 ◽  
Author(s):  
K. Sarazhyna ◽  
Y. Solodovnikova ◽  
A. Son
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skeletal Muscles ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Lower Limbs ◽  
Molecular Genetic Testing ◽  
Membrane Repair ◽  
Rare Type ◽  
A Cell

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

scholarly journals Clinical Outcome of Arthroscopic Partial Resection of Hip Acetabular Labrum Tear: A Case Report

2008 ◽  
Vol 57 (1) ◽  
pp. 167-169
Author(s):  
Masataka Hirotsu ◽  
Hideyuki Kawabata ◽  
Hironori Kakoi ◽  
Junichi Kamizono ◽  
Yoshiya Arishima ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Outcome ◽  
Partial Resection ◽  
Acetabular Labrum ◽  
Labrum Tear

scholarly journals Diffusion-weighted Imaging Reversibility In Stroke After Successful Mechanical Recanalization. Case report

2020 ◽  
Vol 29 (2) ◽  
Author(s):  
Matías Negrotto ◽  
Alejandro M. Spiotta ◽  
Aquilla S. Turk ◽  
Raymond D. Turner ◽  
Jonathan Lena ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Outcome ◽  
Thrombolytic Therapy ◽  
Tissue Damage ◽  
Diffusion Weighted Imaging ◽  
Lesion Size ◽  
Infarct Core ◽  
Mechanical Recanalization ◽  
Diffusion Weighted ◽  
Imaging Characteristics

Increased use of Diffusion-weighted imaging (DWI) in acute stroke has led to observations of early diffusion normalization in lesions thatinitially show diffusion slowing. The “renormalization” of DWI may be spontaneous or the result of thrombolytic therapy, thus, acuteslowing of diffusion is not necessarily an indicator of irreversible tissue damage. The perfusion-diffusion mismatch concept is attractiveas it assumes that DWI lesion size reflects the infarct core whilst the mismatch area reflects the penumbra. However, this concept maybe an oversimplification. This paper shows a case with Diffusion Lesion Reversal after successful neuroendovascular treatment andexcellent clinical outcome, and discuss the imaging characteristics associated with this phenomenon.

scholarly journals Pressure-induced Alopecia from Orthodontic Headgear

2013 ◽  
Vol 14 (5) ◽  
pp. 954-956 ◽  
Author(s):  
Sridhar Premkumar ◽  
Kalanjiam Vidya
Keyword(s):  
Case Report ◽  
Clinical Relevance ◽  
Rare Complication ◽  
Effective Management ◽  
Benefit Ratio ◽  
Orthodontic Therapy

ABSTRACT Every treatment in the dental specialty has its own set of complications, Orthodontic therapy being no exception. Such a problem during the course of treatment puts the specialist in a dilemma as to whether to continue or stop the treatment. One such case in which during headgear therapy, a rare complication such as alopecia was encountered has been dealt with in this paper. This case report shows its effective management while still continuing treatment, thus leading to the desired result. It emphasizes on the importance of maintaining a balance between the benefits and risks of a treatment. Clinical relevance The use of headgear can lead to the rare complication of alopecia and the clinician should be aware of it. Objective The reader should understand the psychological implications of alopecia and also to carry out the treatment after assessing the risk/benefit ratio. How to cite this article Premkumar S, Vidya K. Pressureinduced Alopecia from Orthodontic Headgear. J Contemp Dent Pract 2013;14(5):954-956.

Dental Management of a Patient with a Left Temporal Brain Abscess: A Case Report

Dental Update ◽  
2021 ◽  
Vol 48 (1) ◽  
pp. 54-57
Author(s):  
Aliya Hasan ◽  
Martin Tisdall ◽  
Kathryn Harley
Keyword(s):  
Case Report ◽  
Paediatric Patient ◽  
Clinical Relevance ◽  
Causative Factor ◽  
Odontogenic Infection ◽  
Oral Disease ◽  
Dental Management ◽  
Odontogenic Origin ◽  
Cerebral Infection ◽  
Abdominal Infections

Cerebral abscesses of odontogenic origin are uncommon. Cerebral abscesses are often caused by cardiac and pulmonary disease or infections such as skin or abdominal infections. However, there have been some reported incidences of cerebral abscesses caused by odontogenic infection. This paper aims to discuss a case report whereby an odontogenic infection was the most probable cause of a cerebral abscess in a paediatric patient. CPD/Clinical Relevance: To discuss the importance of oral disease as a potential causative factor for cerebral infection.

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