New variant of the casr gene (c.2459c > t) associated with primary hypoparathyrodism – a case report

2021 ◽  
Author(s):  
Mariana Lavrador ◽  
Adriana Lages ◽  
Araújo Bárbara ◽  
Barros Luísa ◽  
Isabel Paiva
Keyword(s):  
Case Report ◽  
Casr Gene ◽  
New Variant

Anaphylaxis mediated myocardial infarction in a coronary graft: A new variant of Kounis syndrome (a case report)

2013 ◽  
Vol 168 (2) ◽  
pp. e84-e85 ◽  
Author(s):  
Kristen Dazy ◽  
Daniel Walters ◽  
Christine Holland ◽  
James Baldwin
Keyword(s):  
Myocardial Infarction ◽  
Case Report ◽  
Kounis Syndrome ◽  
New Variant

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

Junctional Epidermolysis Bullosa of the Larynx

PEDIATRICS ◽  
1986 ◽  
Vol 78 (1) ◽  
pp. 172-174
Author(s):  
MARGARET A. KENNA ◽  
SYLVAN E. STOOL ◽  
SUSAN B. MALLORY
Keyword(s):  
Case Report ◽  
Epidermolysis Bullosa ◽  
Minor Trauma ◽  
Junctional Epidermolysis Bullosa ◽  
First Case ◽  
New Variant ◽  
Genetically Determined ◽  
Dermatologic Disease ◽  
Hereditary Epidermolysis Bullosa ◽  
Laryngeal Involvement

Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation.1 A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported.2 Airway involvement has not been a notable feature of this disease. We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. CASE REPORT An 11-month-old white boy with known junctional epidermolysis bullosa and mild stridor since birth was referred by his dermatologist for increasing stridor of 24 hours duration. He was initially thought to have croup; however, conservative treatment with mist and racemic epinephrine did not improve his symptoms.

A new variant of Vohwinkel syndrome: A case report

2011 ◽  
Vol 17 (3) ◽  
Author(s):  
Hassan Seirafi ◽  
Somayeh Khezri ◽  
Saeid Morowati ◽  
Kambiz Kamyabhesari ◽  
Mehdi Mirzaeipour ◽  
...  
Keyword(s):  
Case Report ◽  
New Variant

A new variant of progressive encephalomyelitis with rigidity associated with cerebellar ataxia and dementia: Correlation of MRI and histopathological changes. A case report

1997 ◽  
Vol 19 (2) ◽  
pp. 187-191 ◽  
Author(s):  
Tobias Back ◽  
Gisela Stoltenburg-Didinger ◽  
Christoph Ploner ◽  
Helga Meisel ◽  
Rolf Zschenderlein
Keyword(s):  
Case Report ◽  
Cerebellar Ataxia ◽  
Histopathological Changes ◽  
New Variant

scholarly journals Neuropathy Dermatitis following Surgical Nerve Injury

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Khalifa E. Sharquie ◽  
Adil A. Noaimi ◽  
Ali S. Alaboudi
Keyword(s):  
Case Report ◽  
Knee Joint ◽  
Saphenous Vein ◽  
Topical Therapy ◽  
Skin Incision ◽  
Contralateral Side ◽  
Detailed History ◽  
Joint Surgery ◽  
New Variant ◽  
Knee Joint Surgery

Background. Cutting nerve during operations like saphenous vein grafting and knee joint surgery are common surgical procedures.Objective. To report cases of dermatitis at the site of neuropathy following skin incision for saphenous vein grafting and knee joint surgery.Patients and Methods. This case report work was done in the Department of Dermatology, Baghdad Teaching Hospital, during 2009-2010, seven cases were recorded, six following saphenous vein grafting and one case after knee surgery. Five males and two females, their ages ranged from 50 to 66 (58 ± 5.033223) years. Detailed history and full clinical examination were done for each patient regarding all points related to their conditions.Results. All cases presented around 2-3 months following the operation with dermatitis at the site of operational incision. The dermatitis appeared on one side of the operational scar and at area of neuropathy, and the rash did not cross to contralateral side. The dermatitis was well-defined plaque or patch erythematous slight scaly and nonitchy and subsided within few weeks with or without topical therapy.Conclusions. Neuropathy dermatitis is apparently a new variant of dermatitis that follows nerve cut during surgery.

scholarly journals Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report

2018 ◽  
Vol 42 ◽  
pp. 109-115
Author(s):  
Tuna Pehlivanoğlu ◽  
Mehmet Demirel ◽  
Yavuz Sağlam ◽  
Halil İbrahim Balci ◽  
Hayati Durmaz
Keyword(s):  
Case Report ◽  
New Variant
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