Lowe syndrome in a 20-year-old male: the clinical course and genetic analysis in OCRL1

2011 ◽  
Vol 24 (2) ◽  
pp. 211-217
Author(s):  
Yuichirou Tsuji ◽  
Takahiro Murata ◽  
Hiroshi Watanabe ◽  
Toshikazu Shinbo ◽  
Sei Ishiguro ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Course ◽  
Lowe Syndrome

Histological and genetic analysis of anaplastic pleomorphic xanthoastrocytoma suspected of malignant progression over a 12‐year clinical course

2019 ◽  
Vol 69 (10) ◽  
pp. 608-613
Author(s):  
Hiroko Fukushima ◽  
Yoshiko Nakano ◽  
Naomi Ishii ◽  
Nozomi Nozuchi ◽  
Takahiro Okuno ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Course ◽  
Pleomorphic Xanthoastrocytoma ◽  
Malignant Progression

scholarly journals Polyostotic Fibrous Dysplasia in a Child with Bone Fractures and Neuropsychiatric Symptoms, Case Report

2019 ◽  
Vol 3 (1) ◽  
pp. 1-5
Author(s):  
Hala A Al Shaikh
Keyword(s):  
Genetic Analysis ◽  
Fibrous Dysplasia ◽  
Clinical Course ◽  
Bone Fractures ◽  
Neuropsychiatric Symptoms ◽  
Polyostotic Fibrous Dysplasia ◽  
Pathological Fractures ◽  
Mccune Albright Syndrome ◽  
Gnas Gene ◽  
Albright Syndrome

Fibrous dysplasia of the bone in children is a rare, genetic, heterogeneous disorder, associated with extra - skeletal manifestations in the McCune Albright Syndrome . It results from a post - zygotic activating mutation in the (GNAS) gene coding for (Gs alfa) protein. This leads to replacement of the lamellar bone with under - mineralized fibrous tissue, presenting clinically with limping, pain, and pathological fractures . Objective: To demonstrate the clinical course, challenges and treatment of a child with polyostotic fibrous dysplasia presenting with limping, extra skeletal manifestations, neuropsychiatric symptoms and bone fractures. Method : The clinical information and lab results were obtained directly from the mother and the computerized medical records at the treating hospitals. Genetic analysis was done at Washington University School of Medicine, USA. Informed publication consent was obtained from the parents. R esults : The child presented at the age of 3years with limping and was found to have polyostotic fibrous dysplasia and café au lait spot. Later on, he developed neurological symptoms. He had bone fractures in the proximal femur, requiring surgical intervent ion. Bone pain and frequency of fractures improved after Zoledronate injections. Blood genetic analysis of the GNAS - gene was negative. Conclusion : Polyostotic fibrous dysplasia is a rare cause of limping and recurrent pathological fractures in children. Me dical treatment with Biphosphanate injections can positively affect the clinical course of the disease. A negative blood genetic analysis of the GNAS gene does not exclude the McCune Albright Syndrome, and indicates analysis from the affected tissue. Neuro psychiatric symptoms may manifest with fibrous dysplasia without any endocrine involvement.

Epidemiology, clinical course, and genetic analysis of pheochromocytomas/paragangliomas: A single centre tertiary care experience over 16 years from crete-greece

2021 ◽  
Author(s):  
Maria Chrysoulaki ◽  
Florentia Fostira ◽  
Vasiliki Daraki ◽  
Grigoria Betsi ◽  
Maria Sfakiotaki ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Course ◽  
Tertiary Care ◽  
Single Centre ◽  
Care Experience

scholarly journals Asymptomatic Clinical Course of Two Male Siblings with EBV Positive Serology with the X-Linked Lymphoproliferative Gene Defect: Identified through Genetic Analysis of a Kindred

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 11A-11A
Author(s):  
Alejandro P Ortigas ◽  
Boyd Butler ◽  
Ricardo U Sorensen
Keyword(s):  
Genetic Analysis ◽  
Clinical Course ◽  
Gene Defect ◽  
Positive Serology

Oncocytic papillary renal cell carcinoma: A clinicopathological and genetic analysis and indolent clinical course in 14 cases

2017 ◽  
Vol 213 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Guiyan Han ◽  
Wenjuan Yu ◽  
Jing Chu ◽  
Yan Liu ◽  
Yanxia Jiang ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Genetic Analysis ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clinical Course ◽  
Papillary Renal Cell Carcinoma

scholarly journals Occurrence of different strains of Babesia canis in dogs in eastern Poland

2016 ◽  
Vol 60 (4) ◽  
pp. 423-427 ◽  
Author(s):  
Paweł Łyp ◽  
Michał Bartnicki ◽  
Marta Staniec ◽  
Stanisław Winiarczyk ◽  
Łukasz Adaszek
Keyword(s):  
Genetic Structure ◽  
Genetic Analysis ◽  
Geographical Distribution ◽  
18S Rrna ◽  
Clinical Course ◽  
18S Rrna Gene ◽  
Rrna Gene ◽  
Babesia Canis ◽  
Pcr Products ◽  
Different Strains

Abstract Introduction: The aim of this study was to carry out a genetic analysis of Babesia canis isolates detected in dogs in eastern Poland and to study the correlation of the protozoa variant with a specific geographical region. Material and Methods: PCR was used to identify strains of B. canis from naturally infected animals (240 dogs from four provinces: Mazowieckie, Lublin, Podlasie, and Podkarpacie) by amplifying and sequencing a fragment of the 18S rRNA gene. Results: Sequencing the PCR products led to the identification of four variants of B. canis. Two previously described protozoa variants (18S rRNA-A and 18S rRNA-B) were observed in all provinces. Additionally, in the Mazowieckie and Lublin provinces a B. canis variant which contributed to the development of acute or atypical babesiosis was observed. The fourth variant of B. canis was detected only in dogs from the Lublin province, and the course of the disease was subclinical in all dogs infected with this variant. Conclusion: These results indicate the appearance of a new fourth B. canis genotype in Poland and confirm that it is still necessary to study the relationships between the genetic structure of protozoa, geographical distribution of the parasites, and clinical course of the disease.

Epidemic Hepatitis: Prolonged Observation on the Clinical Course With Liver Biopsy Studies

1951 ◽  
Vol 19 (4) ◽  
pp. 755-776 ◽  
Author(s):  
A.W. Barile ◽  
J.T. Taguchi ◽  
S.N. Maimon
Keyword(s):  
Liver Biopsy ◽  
Clinical Course ◽  
Prolonged Observation ◽  
Epidemic Hepatitis

The Influence of Emotional Factors on the Clinical Course of Ulcerative Colitis in Children

1951 ◽  
Vol 18 (3) ◽  
pp. 339-354 ◽  
Author(s):  
Dane G. Prugh
Keyword(s):  
Ulcerative Colitis ◽  
Clinical Course ◽  
Emotional Factors

74: How Septic is Urosepsis? Treatment and Clinical Course of Infected Hydronephrosis

2005 ◽  
Vol 173 (4S) ◽  
pp. 21-21
Author(s):  
Frank Christoph ◽  
Steffen Weikert ◽  
Markus Müller ◽  
Kurt Miller
Keyword(s):  
Clinical Course ◽  
Infected Hydronephrosis
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