Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report

2021 ◽  
Author(s):  
Haruna Yoshikawa ◽  
Takeshi Sato ◽  
Takahiro Ishikawa ◽  
Jumpei Ito ◽  
Fumito Yamazaki ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Renal Tumors ◽  
Potential Benefits ◽  
Rapid Genetic Testing

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.

Pediatric Anastomosing Hemangioma: Case Report and Review of Renal Vascular Tumors in Children

2018 ◽  
Vol 22 (3) ◽  
pp. 269-275 ◽  
Author(s):  
Alvin B Caballes ◽  
Agustina D Abelardo ◽  
Miguel J Farolan ◽  
Januario Antonio D Veloso
Keyword(s):  
Case Report ◽  
Pediatric Patients ◽  
Wilms Tumor ◽  
Vascular Lesion ◽  
Renal Tumors ◽  
Vascular Tumors ◽  
Malignant Neoplasms ◽  
Therapeutic Implications ◽  
Renal Vascular ◽  
Anastomosing Hemangioma

The case involves a 10-year-old child who underwent a left radical nephrectomy for what was believed to be a Wilms’ tumor. Histopath examination indicated a benign vascular lesion, subsequently determined to be an anastomosing hemangioma of the kidney. A comparison with the previously cited pediatric patients with renal vascular tumors is provided, and the inconsistent diagnostic terminologies for these conditions are highlighted. The therapeutic implications of these predominantly benign renal tumors, in the context of the much more frequently encountered malignant neoplasms in children, are additionally discussed.

scholarly journals Comparison of Saliva and Nasopharyngeal Swabs for SARS-CoV-2 Detection in an Emergency Department and Ambulatory Testing Locations

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S126-S126
Author(s):  
C Attaway ◽  
F El-Sharkawy Navarro ◽  
M Richard-Greenblatt ◽  
S Herlihy ◽  
C Gentile ◽  
...  
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Saliva Sample ◽  
Respiratory Viruses ◽  
Routine Clinical Practice ◽  
Limited Data ◽  
Potential Benefits ◽  
Emergency Department Patients ◽  
Positive Agreement

Abstract Introduction/Objective Nasopharyngeal (NP) swabs have been the traditional specimen source used for testing for respiratory viruses. However, at the start of the COVID-19 pandemic, several studies suggested that saliva could also be used as a specimen source for testing for SARS-CoV-2. Despite potential benefits, there was limited data on the characteristics of this specimen type and few commercial assays with FDA emergency use authorization allowed saliva as a specimen source. In order to explore the feasibility and validate using saliva as a specimen source for ambulatory and emergency department patients we designed a study to compare saliva to NP swabs for SARS-CoV-2 testing. Methods/Case Report Specimens were collected in the emergency department and ambulatory testing sites between May 6, 2020-July 7, 2020. Nasopharyngeal swabs were collected as part of routine clinical practice and patients were given written instructions to self-collect 1mL of saliva into a sterile specimen cup with or without a straw. SARS-CoV-2 testing was performed in parallel with both specimen types using the TaqPath COVID-19 Combo Kit (Thermo Fisher Waltham, MA). Saliva was diluted 1:1 in saline prior to testing. Specimens were transported to the lab at 4C and frozen at -80C prior to testing. Results (if a Case Study enter NA) Seventy-four patients had both an NP swab and saliva tested in this study. Thirty of the 74 patients (41%) were unable to produce the full 1mL of saliva requested, but all samples had sufficient volume for testing after dilution. There were 34 positive samples obtained with an 82% positive agreement between the NP swabs and saliva. In 6 cases, the NP swab was positive, and the paired saliva was negative. In 1 case, only the saliva was positive. The average Ct of the positive NP swabs with a paired negative saliva sample was 39.6. There was only a single invalid test for one of the saliva samples. Conclusion Saliva was a straightforward sample to collect and test for SARS-CoV-2. Challenges included obtaining sufficient sample and a less predictable matrix that required dilution to ensure proper pipeting. In this study, NP swabs were more sensitive for detection of SARS-CoV-2. Paired saliva was more often negative in patients shedding small amounts of SARS-CoV-2 based on a high Ct of the positive NP sample.

scholarly journals Clinical Genetic Screening in Adult Patients with Kidney Disease

2020 ◽  
Vol 15 (10) ◽  
pp. 1497-1510 ◽  
Author(s):  
Enrico Cocchi ◽  
Jordan Gabriela Nestor ◽  
Ali G. Gharavi
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Massively Parallel Sequencing ◽  
Kidney Diseases ◽  
Chromosomal Microarray ◽  
Ethical Considerations ◽  
Clinical Genetic ◽  
Genetic Sequencing ◽  
Sequencing Technologies ◽  
Potential Benefits

Expanded accessibility of genetic sequencing technologies, such as chromosomal microarray and massively parallel sequencing approaches, is changing the management of hereditary kidney diseases. Genetic causes account for a substantial proportion of pediatric kidney disease cases, and with increased utilization of diagnostic genetic testing in nephrology, they are now also detected at appreciable frequencies in adult populations. Establishing a molecular diagnosis can have many potential benefits for patient care, such as guiding treatment, familial testing, and providing deeper insights on the molecular pathogenesis of kidney diseases. Today, with wider clinical use of genetic testing as part of the diagnostic evaluation, nephrologists have the challenging task of selecting the most suitable genetic test for each patient, and then applying the results into the appropriate clinical contexts. This review is intended to familiarize nephrologists with the various technical, logistical, and ethical considerations accompanying the increasing utilization of genetic testing in nephrology care.

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.

Siblings with Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Pulkit Agarwal ◽  
Jyotindra Narayan Goswami
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Febrile Illness ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay ◽  
Developmental Regression ◽  
Female Sibling ◽  
History Of

AbstractA 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.

scholarly journals Retromastoid osteoma—a rare case report

2020 ◽  
Vol 2020 (1) ◽  
Author(s):  
Edmund Wooi Keat Tan ◽  
Jason Bae Barco ◽  
Mutee Ur Rehman ◽  
Choon Chieh Tan
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Temporal Bone ◽  
Rare Case ◽  
Screening Colonoscopy ◽  
Adenomatous Polyposis ◽  
Rare Case Report ◽  
Computed Topography ◽  
The Right ◽  
Slow Growing

Abstract Osteomas are slow growing bone tumours and are often asymptomatic. Rarely, they can be present in the temporal bone—only few cases had been reported, with an incidence of 0.1–1%. We describe a case of an osteoma of the temporal bone (retromastoid) found in a 40 year old female, who presented with a slow growing swelling behind the right ear for 9 years. Diagnosis was made on non-contrast computed topography (CT) of the skull. Treatment is indicated in symptomatic cases or cosmetic reasons. Screening colonoscopy and genetic testing for familial adenomatous polyposis (FAP) and Gardner’s syndrome are advised.

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