Clinical case of mandibular fibro-osseous lesions with giant multinuclear cells: molecular-genetic differential diagnostic analysis

2019 ◽  
Vol XIV (4) ◽  
Author(s):  
E. Sviridov ◽  
R. Deev ◽  
N. Redko ◽  
A. Drobyshev ◽  
A. Kadykova
Keyword(s):  
Clinical Case ◽  
Molecular Genetic ◽  
Diagnostic Analysis ◽  
Multinuclear Cells

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 Werner mesomelic dysplasia

2018 ◽  
Vol 6 (4) ◽  
pp. 92-97
Author(s):  
Evgeniia A. Kochenova ◽  
Olga E. Agranovich ◽  
Svetlana I. Trofimova ◽  
Anna P. Nikitina
Keyword(s):  
Clinical Case ◽  
Regulatory Element ◽  
Molecular Genetic ◽  
Hip Dislocation ◽  
Preaxial Polydactyly ◽  
Mesomelic Dysplasia ◽  
Dominant Disease ◽  
Genetic Examination ◽  
Hands And Feet ◽  
Nasal Defects

Introduction. The term “mesomelic dysplasia” refers to a group of disorders wherein limb shortening is most pronounced in the middle segment (forearm and leg) of the extremities. Werner mesomelic dysplasia is characterized by absence or hypoplasia of the tibia, preaxial polysyndactyly on the hands and feet, as well as by triphalangeal thumbs, absence of a patella, and fibular bone dislocation. Molecular genetic causes of the disease are mutations at position 404 of the regulatory element (ZRS) of the SHH gene in the LMBR1 gene (OMIM 188740). Clinical case. A girl with triphalangeal thumbs and polydactyly of the hands, right hip dislocation, tibia hypoplasia, fibular dislocation on both sides, and preaxial polydactyly of the feet was examined and treated at the age of 1 year. Considering the clinical and radiological picture, the girl was diagnosed with Werner mesomelic dysplasia. To verify the disease, a molecular genetic examination of the child was performed. A variant of replacement of 230 T > C in the regulatory element of the ZRS of the SHH gene was discovered in the literature. Discussion. Differential diagnosis can be made with Laurin-Sandrow syndrome, which is characterized by doubling of the ulna and fibula with the absence of the radius and tibia and preaxial polydactyly/syndactyly of the hands and feet. The presence of nasal defects (particularly involving the columella) distinguishes this condition from other syndromes, which was not shown in this clinical observation. Conclusion. We report the clinical case of an autosomal-dominant disease, Werner mesomelic dysplasia, which is a rare pathology with a typical clinical picture combined with congenital hip dislocation, which was not previously described. The molecular genetic examination confirms the presence of a pathogenic variant of the ZRS element of the SHH gene, which causes the development of Werner’s mesomelic dysplasia, but the mutation variant was not registered before, which requires an additional examination of the child’s relatives.

scholarly journals Gaucher disease type 2 (case report)

2020 ◽  
Vol 15 (2) ◽  
pp. 60-64
Author(s):  
D. R. Shagieva ◽  
R. V. Magzhanov ◽  
A. R. Rakhmatullin ◽  
E. V. Sayfullina ◽  
R. G. Musin
Keyword(s):  
Congenital Malformations ◽  
Gaucher Disease ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Clinical Analysis ◽  
Molecular Genetic Analysis ◽  
Oval Window ◽  
Disease Type ◽  
Lysosomal Accumulation

The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.

scholarly journals Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

scholarly journals Acute myeloid leukemia mmicking an Ewing’s sarcoma family tumor: A clinical case

2021 ◽  
Vol 58 (4) ◽  
pp. 24-28
Author(s):  
S. BAITUROVA ◽  
K. OMAROVA ◽  
R. BORANBAEVA ◽  
G. ABDILOVA ◽  
O. PANKOVA ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Clinical Case ◽  
Soft Tissues ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Molecular Genetic ◽  
Young Patients ◽  
Genetic Studies ◽  
Acute Myeloid

Relevance: M6 variant of acute myeloid leukemia is extremely rare in pediatric practice. The diverse clinical manifestations of erythroid leukemia complicate the timely diagnosis of this group of diseases. Purpose: to describe a clinical case of congenital erythroid leukemia with multiple lesions of soft tissues and the skeletal system with complications in the form of the convulsive disorder, presented as a tumor of the Ewing’s sarcoma family, diagnosed at the Research Center of Pediatrics and Pediatric Surgery (Almaty, the Republic of Kazakhstan). Results: The presented clinical case demonstrated challenges in diagnosing and treating young patients with multiple life-threatening tumor lesions. The need to develop molecular genetic studies and expand diagnostic capabilities is an integral part of treating oncohematological diseases. Conclusion: The presented clinical case is of great interest due to its rareness. This case confirms the need to conduct all diagnostic manipulations to assess the process prevalence and choose and conduct molecular genetic studies on all examination and treatment stages.

scholarly journals TYROSINEMIA I TYPE (LITERATURE REVIEW) WITH A DESCRIPTION OF THE CLINICAL CASE

2019 ◽  
Vol 22 (1) ◽  
pp. 57-64
Author(s):  
M. A. Kuznetsova ◽  
N. I. Zryachkin ◽  
Yu. A. Tsareva ◽  
E. I. Zueva
Keyword(s):  
Amino Acid ◽  
Clinical Case ◽  
Enzyme Inhibitor ◽  
Molecular Genetic ◽  
Genetic Mutation ◽  
Modern Concept ◽  
Acid Mixture ◽  
Type I ◽  
Enzyme Replacement ◽  
Hereditary Tyrosinemia

Modern ideas about the most severe variant of hereditary tyrosinemia are reflected -- its first type related to orphan diseases (the population frequency of occurrence is 1: 100,000-120,000 live newborns). The latest data on etiology is highlighted (mutations in the gene for the enzyme fumarylacetoacetase (FAA), leading to a deficiency of fumarylacetohydrolase (FAH), the last enzyme in tyrosine catabоlism; the genetic mutation is localized on human chromosome 15q23-q25 and consists of 14 exons) and the mechanisms of development of the disease ( the bypass abnormal pathway of tyrosine metabolism with the formation of highly toxic and carcinogenic metabolites -- succinyl acetoacetate (SAA) and succinylacetone (SA), others; substrate accumulation mainly in FAH-deficient hepatocytes and proximal renal tubule cells; violation of the processes of gluconeogenesis, ammonia detoxification and hepatic protein synthesis), which determine different clinical variants and symptom polymorphism. A modern classification of type I tyrosinemia and a detailed protocol for diagnostic examination of the patient, including instrumental methods, laboratory monitoring of highly toxic derivatives of the tyrosine metabolic pathway and molecular genetic studies, are presented. Denotes a range of diseases that should be carried out a differential diagnosis of tyrosinemia. The modern concept of treatment of this orphan disease (protein-free diet, specialized amino acid mixtures, hepatoprotectors, vitamin D and others) is laid out with an emphasis on enzyme replacement therapy with nitisinone, an enzyme inhibitor (4-hydroxyphenylpyruvate dioxygenase) of the first phase of tyrosine degradation. A description of a clinical case and a 15-year-old teenager with a hereditary tyrosinemia type I who received a low protein diet, the amino acid mixture «XPHEN TYR Tyrosidone» (Nutricia) and nitisinone (Orfadin®).

scholarly journals Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases

2019 ◽  
Vol 47 (1) ◽  
pp. 83-93
Author(s):  
Yu. Yu. Kotalevskaya ◽  
N. M. Marycheva
Keyword(s):  
Differential Diagnosis ◽  
Epidermolysis Bullosa ◽  
Skin Disease ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Junctional Epidermolysis Bullosa ◽  
Reliable Determination ◽  
Clinical Cases

Background: Epidermolysis bullosa (EB) is a rare hereditary skin disease. It is subdivided into EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. JEB is diagnosed in 2 per 1,000,000 of the population. There are few descriptions of clinical JEB cases in the literature. Clinical diagnosis of JEB and its subtypes is a challenge, especially in the early age. The paper presents 2 clinical cases of JEB in patients of the West Slavonic origin. Clinical case No. 1 was a girl of Ukrainian ethnicity, with confirmed definitive diagnosis of severe generalized JEB. Molecular genetic tests identified mutations of the LAMA3 gene that had not been described previously. The patient died at the age of 24 months from acute respiratory failure. When the patient was alive, her EB type and subtype was not possible to identify, because she had a combination of clinical manifestations typical for various JEB subtypes. Despite such symptoms as hoarse voice, stenoses, granulation tissue of typical location, laryngeal granulations, the girl was steadily gaining weight, with some periods of relative stabilization of the skin disease; she also had longer life longevity than was common for patients with severe generalized JEB. All this made a precise diagnosis difficult. Clinical case No. 2: an ethnic Russian boy with non-classified JEB. Molecular genetic testing helped to identify a homozygote mutation in the LAMA3 gene that had not been previously described; reliable determination of the subtype was not possible. The patient had mixed clinical manifestation similar both to generalized severe JEB and to laryngo-onycho-cutaneous (LOC) syndrome. During his lifetime, the patient was clinically diagnosed with Hallopeau acrodermatitis and LOC syndrome. The differential diagnostic problems were associated with the presence of signs not typical for each of the subtypes. Significant life longevity of the proband is not characteristic for severe generalized JEB (at the time of the publication the patient is 13 years old), whereas for LOC syndrome the absence of eye involvement is not typical, as well as severe laryngeal involvement at adolescence.Conclusion: Detailed descriptions of phenotype of JEB subtypes including rare and minimal clinical signs can be useful to study the clinical manifestations and natural course of the disease, including its differential diagnosis.

PRIMARY HYPOTHYROIDISM IN A HIGH-RISK NEUROBLASTOMA PATIENT AFTER 131I-MIBG THERAPY: A CLINICAL CASE REPORT AND LITERATURE REVIEW

2021 ◽  
Vol 100 (3) ◽  
pp. 258-266
Author(s):  
D.T. Utalieva ◽  
◽  
S.B. Babakhanova ◽  
E.Yu. Ilyina ◽  
N.A. Andreeva ◽  
...  
Keyword(s):  
Case Report ◽  
High Risk ◽  
Literature Review ◽  
Clinical Case ◽  
Molecular Genetic ◽  
High Risk Patient ◽  
Primary Hypothyroidism ◽  
High Dose ◽  
131I Mibg ◽  
Mibg Therapy

In recent decades, there has been marked progress in understanding the biology of the most common extracranial solid tumor of childhood – neuroblastoma (NB), which led to a significant improvement in treatment outcomes due to stratification of patients into risk groups, intensification of treatment of patients with metastatic disease and the presence of unfavorable molecular genetic markers. Survivors who have received multimodal therapies, including chemotherapy, high-dose therapy and autologous peripheral stem-cell transplantation, 131I-metaiodobenzylguanidine (131I-MIBG) therapy, radiation therapy, and immunotherapy have a high risk of developing long-term side effects of treatment (LT SE). The study of the nature and frequency of LT SE after completion of therapy in patients with NB is important to ensure the quality of life and minimize severe health disorders. This article presents a literature review and description of a clinical case report of primary hypothyroidism in a high-risk patient with NB who received multicomponent treatment, including 131I-metaiodobenzylguanidine therapy due to the persistence of MIBG-positive foci after the induction chemotherapy.

scholarly journals Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

2021 ◽  
Vol 18 (1) ◽  
pp. 157-164
Author(s):  
I. V. Zolnikova ◽  
V. V. Kadyshev ◽  
A. V. Marakhonov ◽  
S. I. Kutsev ◽  
R. A. Zinchenko
Keyword(s):  
Visual Acuity ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Optic Disk ◽  
Visual Field Defects ◽  
Cone Dystrophy ◽  
Fiber Layer ◽  
Dominant Type ◽  
Full Field ◽  
Sense Of Smell

The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-digital dysplasia in a 51 years old patient. Patient underwent full ophthalmic examination including autorefractometry, visual acuity testing with full correction, tonometry, biomicroscopy, fundus examination and photo as well as kinetic perimetry, autofluorescence and optical coherence tomography (OCT) of macula and optic disk were performed. Electrophysiological examination included Visual Evoked Potentials (VEP) to flash and pattern stimulation, ISCEV standard electroretinograms (ERG) and macular ERG. For the verification of the diagnosis and pathologic gene molecular genetic examination was performed with family anamnesis previously attained.Results. The patient was complaining the deterioration of vision, hearing loss and the sense of smell. Visual deterioration was associated with nyctalopia. Natural history revealed glaucoma 2а which was diagnosed when he was 48 years old. Best corrected visual acuity was 1,0. Peripheral visual field defects were revealed bilaterally. High visual acuity correlated with normal foveal structure on OCTs the retinal nerve fiber layer (RNFL) was thinner than normal in temporal half; deep excavation was visualized in both eyes. Normal MERG and bilateral decrease of scotopic, maximal full-field ERG was recorded which correlated with nyctalopia, as well as subnormal photopic responses indicating cone system involvement. The genetics revealed characteristic features of the face: a small nose with hypoplasia of the wings of the nose, unfolded nostrils and a wide bridge of the nose (pseudohypertelorism). On right-wing the ear sink was detected 2 antitraguses. Changes fingers upper extremities — operated syndactyly IV and V on the background of brachydactyly of the fingers. On the legs on both sides — syndactyly III–IV. 10 years the sense of smell has been dereriorated. In the study of DNA in proband in direct Sanger sequencing of all exons 1–2 and regions of exon-intron compounds of gene GJA1, was found the pathogenic variant in second exon c.412G>A (p.Gly138Ser) in heterozygous state. Was established autosomal dominant type of disease.Conclusion. We are the first to describe rod-cone dystrophy in oculodental-digital dysplasia.

scholarly journals A clinical case of hereditary papillary thyroid carcinoma associated with a germline DICER1 gene mutation

2017 ◽  
Vol 63 (5) ◽  
pp. 320-324
Author(s):  
Svetlana A. Babinskaya ◽  
Natalia Yu. Kalinchenko ◽  
Alexey A. Ilyin ◽  
Natalia V. Severskaya ◽  
Irina V. Chebotareva ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Gene Mutation ◽  
Multinodular Goiter ◽  
Clinical Case ◽  
Stop Codon ◽  
Molecular Genetic ◽  
Premature Stop Codon ◽  
Papillary Thyroid ◽  
Reading Frame

Here, we report a clinical case of isolated papillary thyroid cancer associated with a germline DICER1 gene mutation in a boy and his father. The father underwent surgery for a euthyroid multinodular goiter at the age of 7 and 9 years. On examination at the age of 27 years, he was diagnosed with papillary thyroid cancer. At the age of 7 years, the boy was suspected of having a multinodular goiter (based on thyroid ultrasonography findings); he underwent total thyroidectomy. A histological examination of the surgical material revealed encapsulated papillary carcinoma. Neither boy nor his father had been exposed to radiation or chemotherapy before the diagnosis of papillary thyroid cancer. To clarify the etiology of disease, a molecular genetic testing was performed using next-generation sequencing (NGS). The proband and his parent had a heterozygous thymine deletion in the exon 4 at position 380, which led to a shift in the reading frame with the formation of a premature stop codon (c.380delT p.L127QfsX3).

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