Identification of 16p11.q2 deletion syndrome on a child inpatient psychiatric unit: A case report and call for inpatient genetic testing

2021 ◽  
Author(s):  
William Gibbs ◽  
Harrison Bell ◽  
Aniruddh Ajith ◽  
Kim Sadtler ◽  
Katrina Escuro ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Deletion Syndrome ◽  
Psychiatric Unit ◽  
Inpatient Psychiatric Unit

scholarly journals Lithium-induced hypercalcemia with normal parathyroid hormone: A case report

2019 ◽  
Vol 9 (5) ◽  
pp. 318-321
Author(s):  
Charles Dorflinger ◽  
Matthew Fuller
Keyword(s):  
Risk Factor ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Parathyroid Gland ◽  
Current Literature ◽  
White Male ◽  
Psychiatric Unit ◽  
Naranjo Algorithm ◽  
Inpatient Psychiatric Unit

Abstract Long-term use of lithium is a known risk factor for hypercalcemia often due to involvement of the parathyroid gland. Because of this, lithium-induced hypercalcemia typically occurs simultaneously with abnormal parathyroid hormone concentrations. This case report describes a 54-year-old white male who has received lithium therapy intermittently for more than 10 years. During admission to an acute inpatient psychiatric unit, the patient experienced hypercalcemia with normal parathyroid hormone concentrations and no other discernible cause. Based on the Naranjo algorithm, lithium was determined to be the probable cause of hypercalcemia. Current literature suggests that lithium-induced hypercalcemia occurs secondary to hyperparathyroidism; however, this case may provide evidence of another, unidentified cause.

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.

The Impact of the Number of Young Adults on an Inpatient Psychiatric Unit

2000 ◽  
Vol 38 (1) ◽  
pp. 33-36
Author(s):  
James P Lepage ◽  
Florence Hatton ◽  
Scott Pollard ◽  
Linda VanHorn ◽  
Patty Coffield ◽  
...  
Keyword(s):  
Young Adults ◽  
Psychiatric Unit ◽  
The Impact ◽  
Inpatient Psychiatric Unit

scholarly journals Factors associated with long length of stay in an inpatient psychiatric unit in Lilongwe, Malawi

2018 ◽  
Vol 54 (2) ◽  
pp. 235-242
Author(s):  
Brian S. Barnett ◽  
Veronica Kusunzi ◽  
Lucy Magola ◽  
Christina P. C. Borba ◽  
Michael Udedi ◽  
...  
Keyword(s):  
Length Of Stay ◽  
Psychiatric Unit ◽  
Factors Associated ◽  
Inpatient Psychiatric Unit
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