CLINICAL CASE REPORT ATYPICAL MYOPATHY IN A YOUNG GIRL WITH 91 CTG REPEATS IN DM1 LOCUS AND A POSITIVE DM1 FAMILY HISTORY

2006 ◽  
Vol 116 (12) ◽  
pp. 1509-1518 ◽  
Author(s):  
DUŠANKA SAVIĆ ◽  
DUŠAN KECKAREVIĆ ◽  
VESNA BRANKOVIĆ-SREĆKOVIĆ ◽  
SLOBODAN APOSTOLSKI ◽  
SLOBODANKA TODOROVIĆ ◽  
...  
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Case ◽  
Young Girl ◽  
Ctg Repeats

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

scholarly journals GOUGEROT-HAILEY-HAILEY’S FAMILIAL BENIGN CHRONIC PEMPHIGUS: A CASE REPORT

2019 ◽  
Vol 22 (3-4) ◽  
pp. 86-92
Author(s):  
O. V Grabovskaya ◽  
N. P Teplyuk ◽  
Yuliya V. Kolesova
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Case ◽  
Treatment Effectiveness ◽  
Diagnosis And Treatment ◽  
Review Of The Literature ◽  
Ozone Therapy ◽  
Treatment Methods

The review of the literature on epidemiology, pathogenesis, diagnosis and treatment methods for chronic familial benign pemphigus Gougerot-Haley-Haley, as well as a clinical case of a patient with this disease with family history are presented. The manifestation of the disease occurred at the age of 24, after childbirth. Later there were numerous relapses. Remission was quickly achieved after treatment with antibiotics and oxygen-ozone therapy. In recent years, there has been an increase in the frequency of exacerbations of the disease, and a decrease in treatment effectiveness.

DIAGNOSIS OF NONRENTHENOLOGICAL AXIAL SPONDYLITIS IN A YOUNG GIRL WITH A FAMILY HISTORY OF RHEUMATIC PATHOLOGY

2019 ◽  
Vol 5 (3) ◽  
pp. 19-25
Author(s):  
А. Демидова ◽  
A. Demidova
Keyword(s):  
Ankylosing Spondylitis ◽  
Family History ◽  
Clinical Case ◽  
Early Stage ◽  
Young Girl ◽  
Functional Disorders ◽  
Hip Joints ◽  
Lower Back ◽  
Initial Request ◽  
History Of

The article presents a clinical case of nonrenthenological ankylosing spondylitis (as). AU was diagnosed at the initial request for medical help for pain in the lower back and hip joints. Timely diagnosis was carried out taking into account the burdened hereditary anamnesis. AU was detected at an early stage of the disease, when persistent functional disorders in the spine and joints have not yet formed, which could later become irreversible.

scholarly journals Cherubism - Clinical case report and narrative review

2021 ◽  
Vol 10 (2) ◽  
pp. 22510212085
Author(s):  
Leonardo Alan Delanora ◽  
Ana Maira Pereira Baggio ◽  
Nathália Januario de Araujo ◽  
Idelmo Rangel Garcia-Junior ◽  
Sabrina Ferreira
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Family History ◽  
Bone Disease ◽  
Clinical Characteristics ◽  
Clinical Case ◽  
Giant Cells ◽  
Brown Tumor ◽  
Review Of The Literature ◽  
History Of

Cherubism is described as a rare and benign hereditary bone disease, characterized by a bilateral volumetric increase in the maxillary bones, with a greater predilection for males in childhood. Clinically, it presents as a volumetric enlargement of the mandible and, maxilla, which is generally painless, firm on palpation and varies in relation to size and extension. Its differential diagnosis is the Brown Tumor of Hyperparathyroidism and the Central Lesion of Giant Cells. The diagnosis is based on the assessment of clinical characteristics together with complementary exams. The objective of this study was to carry out a brief review of the literature and report a clinical case of this pathology in a 9-year-old child with a family history of cherubism, assessed through imaging, histopathological and karyotype exams, which continues to be assisted by the oral and maxilofacial surgery team of the Faculdade de Odontologia de Araçatuba - FOA Unesp since the treatment of the cherubism still does not have a definitive protocol.

scholarly journals VON HIPPEL-LINDAU SYNDROME: ASPECTS OF TREATMENT AND MANAGEMENT. CASE REPORT AND LITERATURE REVIEW

2019 ◽  
Vol 9 (3) ◽  
pp. 165-171
Author(s):  
I. I. Larina ◽  
N. M. Platonova ◽  
E. A. Troshina ◽  
A. A. Roslyakova ◽  
D. G. Belzevich ◽  
...  
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Case ◽  
Genetic Basis ◽  
Multidisciplinary Approach ◽  
Surgery Complications ◽  
Von Hippel Lindau ◽  
History Of ◽  
Natural Characteristic ◽  
Von Hippel Lindau Syndrome

The steadily growing interest in studying of endocrine genetics is driven not only by the search for new pathologies but also by the most pressing need to develop methods for early diagnosis, treatment and management of patients. Though 20% of all the patients with von Hippel-Lindau syndrome do not have a family history of the disease; a genetic basis is a natural characteristic of the disease and determinates a phenotype. Despite the nonaggressive course, in general, a relative unpredictability of the syndrome signs onset and the lack of regular monitoring can increase the risk of surgery complications and cause a disability at a young age. The presented clinical case shows the need for a multidisciplinary approach to management of the patients with von Hippel-Lindau syndrome.

Clinical Case Report: Manifestation of Hereditary Neuralgic Amyotrophy in Childhood

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
L. Voges ◽  
G. Stettner ◽  
D. Weise ◽  
K. Brockmann ◽  
J. Gärtner ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Neuralgic Amyotrophy

GH/TSH secreting adenoma: a clinical case report: GH/TSH secreting adenoma: a clinical case report

2018 ◽  
Author(s):  
Tatiana Tarasova ◽  
Alexander Lutsenko ◽  
Elena Przhiyalkovskaya ◽  
Ekaterina Pigarova ◽  
Larisa Dzeranova ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Case

Designing Smile of a Worn Out Dentition - a Clinical Case Report

2012 ◽  
Vol 2 (5) ◽  
pp. 415-417
Author(s):  
Dr. Bansi M Bhusari ◽  
◽  
Dr. Shruti Sura ◽  
Dr. Kalpan Desai ◽  
Dr. Ridhima Mahajan
Keyword(s):  
Case Report ◽  
Clinical Case

The Effectiveness of Behaviour Therapy in Writer’s Cramp: A Case Report

2016 ◽  
Vol 3 (2) ◽  
Author(s):  
Mahesh M M ◽  
Dr. Johnson Alex
Keyword(s):  
Mental Illness ◽  
Case Report ◽  
Family History ◽  
Male Patient ◽  
Motor Nerve ◽  
Conclusive Evidence ◽  
Behaviour Therapy ◽  
Present Treatment ◽  
Writer’S Cramp ◽  
Writer's Cramp

42 years old male patient referred from neurology department, working as a teacher, educated up to MSc, premorbidly anxious personality, family history mental illness (first degree relatives), comes from MSES with presenting complaints of difficulty in writing or copying since seven years. Disability progressed and he was unable to write even a few words legibly and could not hold object which leads to anxiety and dependency. When the patient was examined at Neurology OPD, find out that he has normal sensory and motor nerve functions. The present treatment involved the use of Bahaviour therapy. The findings in this case is very encouraging and studies with large sample sizes can be considered for further conclusive evidence on the treatment of writer’s cramp.

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