scholarly journals Autosomal dominant osteopetrosis type 1

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Osteopetrosis

PLEXIFORM NEUROFIBROMA OF THE BRACHIAL PLEXUS – A RARE CASE REPORT

2021 ◽  
pp. 13-15
Author(s):  
Surya Rao Rao Venkata Mahipathy ◽  
Alagar Raja Durairaj ◽  
Narayanamurthy Sundaramurthy ◽  
Anand Prasath Jayachandiran ◽  
Suresh Rajendran
Keyword(s):  
Brachial Plexus ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Plexiform Neurofibroma ◽  
Autosomal Dominant Disorder ◽  
Surgical Debulking ◽  
Rare Case Report ◽  
Benign Tumours ◽  
Common Benign Tumour

Neurobroma is a common benign tumour occurring as part of an autosomal dominant disorder, neurobromatosis type 1, leading to the formation of benign tumours or neurobromas of the peripheral nervous system. Large neurobromas of the brachial plexus are rare and present a difcult challenge for surgeon due to the anatomical complexity of the brachial plexus. Dermal neurobromas usually present with swelling and occasional pain, but neurobromas associated with the brachial plexus present with pain and neurological symptoms. These plexiform neurobromas of the brachial plexus are known to undergo malignant transformation. Here, we present a case of a large plexiform neurobroma affecting the left brachial plexus and extending till the elbow, conrmed with MRI and surgical debulking was done.

scholarly journals von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina

2017 ◽  
Vol 30 (2) ◽  
pp. 310-314 ◽  
Author(s):  
Julian A. Crespi ◽  
Laura S. Barrientos ◽  
Guillermo Giovambattista
Keyword(s):  
Autosomal Dominant ◽  
Buenos Aires ◽  
Von Willebrand Disease ◽  
Incomplete Penetrance ◽  
Doberman Pinscher ◽  
Coagulation Tests ◽  
Doberman Pinschers ◽  
Von Willebrand ◽  
Male Carrier

von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G>A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argentina. We found a 0.41 frequency for the mutated allele, which varied significantly within families (family 1 = 0.43, family 2 = 0.58, unrelated animals = 0.35). The use of a popular founder male carrier of mutant allele A increased vWD incidence within a family and in the general population. The mode of inheritance was confirmed as autosomal dominant with incomplete penetrance. No differences were found between sexes and coat colors. Pyrosequencing was a good complement to clinical and coagulation tests for vWD type 1 diagnosis and a useful alternative for detecting the c.7437G>A mutation.

scholarly journals Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Parminder Kaur ◽  
Inusha Panigrahi ◽  
Harleen Kaur ◽  
Thakurvir Singh ◽  
Chakshu Chaudhry
Keyword(s):  
Hearing Loss ◽  
Bone Density ◽  
Genetic Heterogeneity ◽  
Asian Indians ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Epigenetic Alterations ◽  
High Bone ◽  
High Bone Density ◽  
Autosomal Dominant Osteopetrosis

Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.

scholarly journals Molecular Basis of Primary Hyperparathyroidism

2010 ◽  
Vol 2 (2) ◽  
pp. 63-70
Author(s):  
Peyman Björklund ◽  
Lee F Starker ◽  
Annabelle L Fonseca ◽  
Tobias Carling
Keyword(s):  
Primary Hyperparathyroidism ◽  
Genetic Predisposition ◽  
Molecular Basis ◽  
Multiple Endocrine Neoplasia ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Dominant Inheritance ◽  
The Past ◽  
Endocrine Neoplasia

Abstract During the past decade and a half, studies of genetic predisposition, parathyroid tumorigenesis, and molecular genetics of familial hyperparathyroid disorders have started to unveil the molecular basis of pHPT. Primary HPT is found in several distinct disorders with autosomal dominant inheritance such as in multiple endocrine neoplasia type 1 (MEN1), MEN2A, the HPT-jaw tumor syndrome (HPT-JT), familial isolated hyperparathyroidism (FIHPT), autosomal dominant mild hyperparathyroidism (ADMH), and neonatal severe HPT (NSHPT).

scholarly journals A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

2018 ◽  
Vol 2018 ◽  
Author(s):  
Benjamin Kwan ◽  
Bernard Champion ◽  
Steven Boyages ◽  
Craig F Munns ◽  
Roderick Clifton-Bligh ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Normal Serum ◽  
Mirror Image ◽  
List Type ◽  
Basal Ganglia Calcification ◽  
Proper Management ◽  
Serum Pth

Summary Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members. Learning points: ADH1 is a rare cause of hypoparathyroidism due to activating CASR mutations and is the mirror image of familial hypocalciuric hypercalcaemia. In patients with ADH1, symptoms of hypocalcaemia may be mild or absent. Basal ganglia calcification may be present in over a third of patients. CASR mutation analysis is required for diagnostic confirmation and to facilitate proper management, screening and genetic counselling of affected family members. Treatment with calcium and activated vitamin D analogues should be reserved for symptomatic individuals due to the risk of exacerbating hypercalciuria and its associated complications.

scholarly journals Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

2018 ◽  
Vol 33 (3) ◽  
pp. 380 ◽  
Author(s):  
Seon Young Kim ◽  
Younghak Lee ◽  
Yea Eun Kang ◽  
Ji Min Kim ◽  
Kyong Hye Joung ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Type Ii ◽  
Autosomal Dominant Osteopetrosis

Autosomal Dominant Osteopetrosis Type II

2009 ◽  
pp. 196-196
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Type Ii ◽  
Autosomal Dominant Osteopetrosis
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