scholarly journals A Case Report of Suspected Malignant Hyperthermia: How Will the Diagnosis Affect a Patient’s Insurability?

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Brian M. Osman ◽  
Isabela C. Saba ◽  
William A. Watson
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Malignant Hyperthermia ◽  
Gold Standard ◽  
Neck Surgery ◽  
Genetic Discrimination ◽  
Insurance Companies ◽  
Significant Clinical Improvement ◽  
Hospital Discharge Records ◽  
Improving Accuracy

The purpose of this case report is to increase awareness that a diagnosis of malignant hyperthermia may have long-lasting or permanent effects on a patient’s insurance eligibility or premiums despite legislation providing varying levels of protection from preexisting conditions or genetic discrimination. We present a case of severe rigors, unexplained severe metabolic acidosis, and severe hyperthermia in a patient after general anesthesia for extensive head and neck surgery. The patient was treated for malignant hyperthermia and demonstrated a significant clinical improvement with the administration of dantrolene. Even with an “almost certain” diagnosis of malignant hyperthermia by clinical presentation, genetic testing was negative and the gold-standard caffeine-halothane contracture test has yet to be performed. Laboratory results, clinical grading scales, and genetic testing support a diagnosis of malignant hyperthermia but the gold standard is a live muscle biopsy and caffeine-halothane contracture test. A clinical diagnosis of MH or a positive caffeine-halothane contracture test could result in exclusion from genetic discrimination legislature due to the fact that diagnosis can be confirmed without genetic testing. The fate of the Affordable Care Act may also affect how insurance companies scrutinize this disease. Improving accuracy of MH diagnosis in hospital discharge records will be crucial.

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.

scholarly journals Leishmania mexicana in a central Texas cat: clinical presentation, molecular identification, sandfly vector collection and novel management

2021 ◽  
Vol 7 (1) ◽  
pp. 205511692199959
Author(s):  
Kaitlin Hopke ◽  
Alyssa Meyers ◽  
Lisa Auckland ◽  
Sarah Hamer ◽  
David Florin ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Success ◽  
Leishmania Species ◽  
Canine Leishmaniosis ◽  
Leishmania Mexicana ◽  
Cutaneous Lesions ◽  
Clinical Appearance ◽  
Significant Clinical Improvement ◽  
Central Texas ◽  
The Right

Case summary This case report documents the clinical appearance, diagnosis and novel treatment of a central Texas cat with cutaneous leishmaniosis. The cat presented with a linear erosion on the right pinnal margin, an ulcerated exophytic nodule on the right hock and a swelling in the right nostril. Cytological and histopathological findings were consistent with leishmaniosis. PCR confirmed the presence of Leishmania mexicana, a species endemic to Texas. An epidemiological investigation was conducted by trapping sandflies from the cat’s environment. Sandflies collected were identified as Lutzomyia species, known vectors of Leishmania species. Given the lack of validated medical therapies for L mexicana in cats, treatments typically prescribed for canine leishmaniosis were administered. Allopurinol achieved clinical success but was discontinued due to suspected drug-related neutropenia. Topical imiquimod also improved lesional skin but was not sustainable due to application difficulty. Oral administration of artemisinin resulted in significant clinical improvement of cutaneous lesions without reported adverse events. Nearly 8 months after the initiation of artemisinin therapy, the cat remained systemically healthy with stable lesions. Relevance and novel information This case report demonstrates endemic feline leishmaniosis in central Texas and provides the clinician with alternative therapeutic options for medical management.

Postnatally acquired CMV meningitis diagnosed via BioFire FilmArray: A case report

2020 ◽  
pp. 1-6
Author(s):  
A. Stark ◽  
J. Peterson ◽  
K. Weimer ◽  
C. Hornik
Keyword(s):  
Case Report ◽  
Birth Weight ◽  
Breast Milk ◽  
Premature Infants ◽  
Gold Standard ◽  
Very Low Birth Weight ◽  
Definitive Treatment ◽  
Cmv Infection ◽  
Term Infants ◽  
Low Birth Weight Infant

Postnatally acquired cytomegalovirus (CMV) is commonly acquired via breast milk, with premature infants more frequently developing symptoms of CMV infection in comparison to term infants. Meningitis is a rare clinical manifestation of CMV infection. The diagnosis of meningitis is difficult to make in infants, particularly those who are preterm. Consequentially, broad-spectrum empiric antimicrobial coverage is often administered for several days while waiting for current gold standard CSF testing to result. The BioFire FilmArray (BFA) simultaneously tests for 14 different pathogens, including CMV, allowing for quicker diagnosis and shorter time to definitive treatment. Here, we report a very low birth weight infant with postnatally acquired CMV meningitis, the first to our knowledge to be diagnosed using the BioFire FilmArray.

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.

Infant Automobile Restraint Systems: Beware of the Sun

PEDIATRICS ◽  
1980 ◽  
Vol 65 (3) ◽  
pp. 625-626
Author(s):  
Fred Hankin ◽  
Fred Vermeulen
Keyword(s):  
Case Report ◽  
Motor Vehicle ◽  
Female Infant ◽  
Insurance Companies ◽  
White Female ◽  
The Sun ◽  
Adverse Incident ◽  
Infant Safety

The use of infant safety seats in automobiles has become a standard recommendation of physicians, insurance companies, and various organizations. The efficacy of these devices in the prevention of serious motor vehicle trauma is well recognized.1-7 We report an adverse incident involving such a restraining device. CASE REPORT J.R. is a 12-week-old white female infant who was secured in such a restrainer seat in the recommended manner. The day of admission was an unusually sunny spring afternoon and the child was wearing only a T-shirt and a diaper. Persistent crying by the child for 15 minutes led to the discovery of a blister 3 cm in diameter on the exposed portion of the patient's anterior right thigh (Figure).

Sign in / Sign up

Export Citation Format

Share Document