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.

scholarly journals GENETIC ASPECTS OF PREGNANCY MISCARRIAGE

2019 ◽  
pp. 71-76
Author(s):  
K. M. Lisova ◽  
I. V. Kalinovska ◽  
O. M. Yuzko
Keyword(s):  
Pregnant Women ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Control Group ◽  
Molecular Genetic Study ◽  
Immunological Parameters ◽  
Fetoplacental Complex ◽  
Maternal Genotype ◽  
A1166c Polymorphism

Pregnancy miscarriage is a consequence of many factors. The aim of the study was to analyze the effect of miscarriage gene on embryometric, ultrasound, hormonal, immunological parameters in pregnant women, and to evaluate its prognostic value. The main group includes 31 pregnant women who had clinical signs of miscarriage in current or previous pregnancy. The control group consists of 32 healthy pregnant women whose clinical-paraclinical parameters served as a control to compare the data of the pregnancy survey of the main surveillance group. A general clinical examination and a special obstetrical examination (complaints, anamnesis, general medical examination, obstetric examination), biochemical studies (determination of hormones of the fetoplacental complex in blood serum of pregnant women), ultrasound, immunological studies, histological studies of the placenta, molecular genetic study A1166C polymorphism of the AGTR1 gene were made. In the course of the research, the genetic determinism of miscarriage was discovered. The polymorphism of the A1166C of the AGTR1 gene was considered as a prognostic marker of miscarriage in early gestational term and preeclampsia in the second half of pregnancy. A reliable marker of abortion was the maternal genotype 1166AC for the genome AGTR1. The risk of occurrence of clinical manifestations of abortion increased five times. At simultaneous influence of all prognostic factors the risk of abortion increased 6,25 times. Detection of genetic markers of pregnancy miscarriage will allow early correction of this pathology and prevent perinatal loss.

scholarly journals Determination of the carrier frequency of mutations in the CFTR, PAH, GALT and GJB2 genes among 2168 individuals without clinical signs of hereditary diseases

2019 ◽  
pp. 30-35
Author(s):  
Г.Ю. Зобкова ◽  
В.В. Кадочникова ◽  
Д.Д. Абрамов ◽  
А.Е. Донников ◽  
Н.С. Демикова
Keyword(s):  
Real Time ◽  
Real Time Pcr ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Hereditary Diseases ◽  
Gjb2 Gene ◽  
Frequent Mutations ◽  
High Level ◽  
Autosomal Recessive Diseases

Цель: оценка частоты гетерозиготного носительства мутаций в генах CFTR, PAH, GALT и GJB2 среди здоровых индивидов. Материалы и методы. В исследовании принимали участие 1000 доноров крови, проживающих в Москве и 1168 сотрудников ФГБУ «НМИЦ АГП им. В.И. Кулакова», проживающих в Москве и Московской области. У всех участников исследования отсутствовали клинические проявления наследственных заболеваний. Молекулярно-генетическое исследование образцов проводили путём анализа наиболее частых мутаций в генах CFTR, PAH, GALT и GJB2 с применением технологии real-time PCR Результаты. При генотипировании были выявлены 46 носителей мутаций в гене CFTR, 63 носителя мутаций в гене PAH, 12 носителей мутаций в гене GALT и 74 носителя мутации в гене GJB2. Кроме того, в 3 случаях было установлено сочетанное носительство мутаций: CFTR: F508del + GALT:Q188R; CFTR:dele2,3 (21kb) + GJB2:35delG; GJB2:35delG + GALT:Q188R. Выводы. Полученные данные свидетельствуют о высокой частоте носительства мутаций в исследуемых генах в обследованной выборке. Таким образом, имеются предпосылки для диагностики носительства мутаций, приводящих к наиболее частым аутосомно-рецессивным заболеваниям в популяции. Подобные исследования могут стать эффективным инструментом для профилактики наследственной патологии в семьях носителей мутаций. The study aim was to assess the frequency of heterozygous carriage of mutations in the CFTR, PAH, GALT, and GJB2 genes among healthy individuals. Materials and methods. The study involved 1000 blood donors living in Moscow and 1168 employees of the FSBI Research center for obstetrics gynecology and perinatology MOH Russia, living in Moscow and the Moscow region. All participants in the study did not have clinical manifestations of hereditary diseases. Molecular genetic studies of the samples were carried out by analyzing the most frequent mutations in the CFTR, PAH, GALT and GJB2 genes, using real-time PCR technology Results. 46 carriers of mutations in the CFTR gene, 63 carriers of mutations in the PAH gene, 12 carriers of mutations in the GALT ge ne and 74 carriers of mutations in the GJB2 gene were identified. In addition, in 3 cases, a combined carriage of mutations was found: CFTR: F508del + GALT: Q188R; CFTR: dele2.3 (21kb) + GJB2: 35delG; GJB2: 35delG + GALT: Q188R. Conclusion. The data obtained indicate a fairly high level of carriage of the studied diseases. Thus, there are prerequisites and opportunities for diagnosing the carriage of the most common autosomal recessive diseases in the population. Such studies can be an effective tool for the prevention of hereditary pathologies and reduce the incidence of diseases.

scholarly journals PARANEOPLASTIC SYNDROMES IN THE PRACTICE OF A NEUROLOGIST (CLINICAL CASES)

2019 ◽  
pp. 44-51
Author(s):  
N. L. Bozhenko ◽  
M. I. Bozhenko ◽  
S. Y. Кyrylyuk ◽  
I. M. Bozhenko ◽  
A. O. Tyutko
Keyword(s):  
Differential Diagnosis ◽  
Clinical Case ◽  
Careful Analysis ◽  
Paraneoplastic Syndromes ◽  
Systemic Effects ◽  
Malignant Diseases ◽  
The Future ◽  
Clinical Cases

Paraneoplastic syndromes are the rare states caused by a change in the immune system's response to neoplasms. These include non-metastatic systemic effects that accompaniy malignant diseases. Diagnosis of these syndromes has some difficulties. In this article clinical cases of patients with paraneoplastic syndromes are analyzed and differential diagnosis is performed. Careful analysis of each clinical case is extremely important for the accumulation of experience, improvement of diagnostics and avoiding mistakes in the future.

scholarly journals Clinical case of differential diagnosis of retrocervical endometriosis

2021 ◽  
Vol 8 (2) ◽  
Author(s):  
Sergey A. Levakov ◽  
Ainur E. Mamedova ◽  
Gyullar Y. Azadova ◽  
Sergey V. Paukov
Keyword(s):  
Differential Diagnosis ◽  
Histological Examination ◽  
Clinical Case ◽  
Progressive Disease ◽  
Abdominal Cavity ◽  
Clinical Manifestations ◽  
Fallopian Tubes

Endometriosis is a chronic hormone-dependent progressive disease characterized by the presence of ectopic endometrioid tissue. Most often, endometriosis affects the ovaries, fallopian tubes and the abdominal cavity, but endometrioid foci are also found in the intestines, heart, lungs, skin and other atypical localizations. This article presents a clinical case of retrocervical endometriosis diagnosed based on the results of pathological and histological examination. It is important to note the complexity of the differential diagnosis of this form of endometriosis due to secondary changes in the area of the colon and the absence of characteristic clinical manifestations.

scholarly journals MESENCHYMAL TUMORS OF THE COLON AND RECTUM: DIAGNOSIS, TREATMENT, PROGNOSIS (case report and review)

2020 ◽  
Vol 19 (3) ◽  
pp. 97-112
Author(s):  
O. A. Mainovskaya ◽  
M. A. Tarasov ◽  
E. M. Romanova ◽  
S. V. Chernyshov
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Mesenchymal Tumor ◽  
Mesenchymal Tumors ◽  
Different Types ◽  
Colon And Rectum ◽  
Treatment Prognosis ◽  
Derivatives Of

Mesenchymal tumors of the colon and rectum are extremely rare and do not have specific clinical manifestations, their diagnosis and staging cause certain difficulties.Different types of mesenchymal tumors differ in prognosis and choice of the treatment. It explains the importance of differential diagnosis of these neoplasms among themselves and tumors-derivatives of other embryonic structures.The article describes the clinical case of a rare mesenchymal tumor and management of the patient.

CLINICAL CASE: MICROSCOPIC POLYANGIITIS AS ONE OF THE MAIN VARIANTS OF PULMONARY-RENAL SYNDROME

Vestnik ◽  
2021 ◽  
pp. 345-349
Author(s):  
М.А. Жанузаков ◽  
М.К. Бапаева ◽  
А.Ж. Шурина ◽  
Э.М. Утежанов
Keyword(s):  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Research Methods ◽  
Clinical Case ◽  
Microscopic Polyangiitis ◽  
Clinical Manifestations ◽  
Additional Research ◽  
Treatment Goal ◽  
Adequate Treatment ◽  
Pulmonary Renal Syndrome

Клинические проявления микроскопического полиангиита многообразны, что затрудняет своевременную диагностику и соответственно адекватное лечение. Цель: привлечь внимание терапевтов, пульмонологов, нефрологов к своевременному выявлению легочно-почечного синдрома и установлению его нозологической основы, в частности микроскопического полиангиита на примере клинического случая. Материалы и методы: проведены обследование пациента с микроскопическим полиангиитом и дифференциальная диагностика в рамках легочно-почечного синдрома. Результаты: на основании анамнеза заболевания, результатов клинического и дополнительных методов исследования пациента, установлен диагноз микроскопического полиангиита. Выводы: для ранней диагностики микроскопического полиангиита необходима настороженность при возникновении легочно-почечного синдрома в виде сочетания гломерулонефрита и геморрагического альвеолита на фоне сосудистой пурпуры. Clinical manifestations of microscopic polyangiitis are diverse, which complicates timely diagnosis and, accordingly, adequate treatment. Goal: to draw the attention of therapists, pulmonologists, nephrologists to the timely detection of pulmonary-renal syndrome and the establishment of its nosological basis, in particular microscopic polyangiitis by the example of a clinical case. Materials and methods: an examination of a patient with microscopic polyangiitis and differential diagnosis within the framework of pulmonary-renal syndrome were carried out. Results: based on the anamnesis of the disease, the results of clinical and additional research methods of the patient, the diagnosis of microscopic polyangiitis was established. Conclusions: for early diagnosis of microscopic polyangiitis, alertness is necessary in the event of pulmonary-renal syndrome in the form of a combination of glomerulonephritis and hemorrhagic alveolitis against the background of vascular purpura.

scholarly journals LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1055 ◽  
Author(s):  
Sarah Kiener ◽  
Aurore Laprais ◽  
Elizabeth A. Mauldin ◽  
Vidhya Jagannathan ◽  
Thierry Olivry ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Epidermolysis Bullosa ◽  
Clinical Signs ◽  
Autosomal Recessive Inheritance ◽  
Missense Variant ◽  
Loss Of Function ◽  
Junctional Epidermolysis Bullosa ◽  
Skin Fragility ◽  
Close Relatives ◽  
Tentative Diagnosis

In a highly inbred Australian Shepherd litter, three of the five puppies developed widespread ulcers of the skin, footpads, and oral mucosa within the first weeks of life. Histopathological examinations demonstrated clefting of the epidermis from the underlying dermis within or just below the basement membrane, which led to a tentative diagnosis of junctional epidermolysis bullosa (JEB) with autosomal recessive inheritance. Endoscopy in one affected dog also demonstrated separation between the epithelium and underlying tissue in the gastrointestinal tract. As a result of the severity of the clinical signs, all three dogs had to be euthanized. We sequenced the genome of one affected puppy and compared the data to 73 control genomes. A search for private variants in 37 known candidate genes for skin fragility phenotypes revealed a single protein-changing variant, LAMB3:c.1174T>C, or p.Cys392Arg. The variant was predicted to change a conserved cysteine in the laminin β3 subunit of the heterotrimeric laminin-322, which mediates the binding of the epidermal basement membrane to the underlying dermis. Loss-of-function variants in the human LAMB3 gene lead to recessive forms of JEB. We confirmed the expected co-segregation of the genotypes in the Australian Shepherd family. The mutant allele was homozygous in two genotyped cases and heterozygous in three non-affected close relatives. It was not found in 242 other controls from the Australian Shepherd breed, nor in more than 600 other controls. These data suggest that LAMB3:c.1174T>C represents the causative variant. To the best of our knowledge, this study represents the first report of a LAMB3-related JEB in domestic animals.

scholarly journals A Case Report of Bullous Emphysema in an Adolescent: Congenital Malformation or Outcome of Bronchopulmonary Dysplasia?

2020 ◽  
Vol 2 ◽  
pp. 2-6
Author(s):  
Svitlana Ilchenko ◽  
Anastasiia Fialkovska ◽  
Oleksii Makoveychuk
Keyword(s):  
Differential Diagnosis ◽  
Clinical Case ◽  
Diagnostic Method ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Detailed Examination ◽  
Pathological Process ◽  
Pulmonary Diseases ◽  
Chronic Obstructive ◽  
Chronic Obstructive Pulmonary Diseases

Pulmonary emphysema belongs to the group of chronic obstructive pulmonary diseases, and inpediatric pulmonology is one of the complex diagnoses that require a careful differential diagnosis. Thearticle describes the possible causes of the formation and clinical manifestations of pulmonaryemphysema in children. We present a clinical case of bullous emphysema in a teenager. This case showsthat a detailed examination using such a modern diagnostic method as high-resolution computedtomography played a crucial role in establishing the patient's correct diagnosis. However, establishing thenature of this pathological process in the child was very difficult. Perhaps an earlier diagnosis couldprevent severe irreversible changes in a teenager's lungs would avoid developing the diffusebronchopulmonary process.

scholarly journals SYNDROME OF THE FIRST GILL ARCH IN A NEWBORN CHILD (CLINICAL CASE)

2020 ◽  
Vol 20 (4) ◽  
pp. 237-240
Author(s):  
M. Yе. Fesenko ◽  
O. A. Scherban ◽  
M. M. Fastovets ◽  
O.O. Kalyuzhka ◽  
Yu. I. Chernyavska
Keyword(s):  
At Risk ◽  
Clinical Case ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Facial Asymmetry ◽  
Final Diagnosis ◽  
Gill Arch ◽  
Dynamic Monitoring ◽  
Large Variability ◽  
Neuropsychological Development

The article describes a clinical case of “First Gill Arch Syndrome" in a newborn girl, the peculiarities of the syndrome, its diagnosis. The characteristics of this disease is that the mother of the child was at risk group due to smoking, anaemia during the pregnancy and medical abortions in the past obstetric history. The aetiology of "First Gill Arch Syndrome" is insufficiently studied, but, according to latest concepts, this condition results from the mutations in the TCOF1 gene. The aetiology of the disease also does not exclude the role of adverse obstetric and gynaecological anamnesis and diseases of the mother, previous medical abortions and teratogenic factors. Difficulties in diagnosis are due to the large variability of clinical manifestations and course of the disease. The final diagnosis of the child was based on specific clinical signs of the disease: facial asymmetry, unilateral facial paralysis (lesions of the facial nerve on the right), the presence of blind fistula of the left cheek and skin suspension of the left auricle. We can conclude about the necessity to elaborate preventive measures to reduce the occurrence of this disease: timely ultrasound examination of pregnant women, who are at risk and mandatory dynamic monitoring of a child with this disease to assess physical and neuropsychological development.

scholarly journals THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES

2018 ◽  
Vol 17 (2) ◽  
pp. 157-165
Author(s):  
Nataliya A. Sdvigova ◽  
Elena N. Basargina ◽  
Dmitry V. Ryabtsev ◽  
Kirill V. Savostyanov ◽  
Alexander A. Pushkov ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Systolic Dysfunction ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Hereditary Diseases ◽  
Molecular Genetic Study ◽  
Disease Etiology ◽  
Myocardial Diseases ◽  
Clinical Cases

Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic complications). Considering the variety of genetic disorders associated with the development of noncompaction cardiomyopathy, genetic verification of the diagnosis is important for determining the prognosis and conducting genetic counselling of families with cases of the disease.Description of the Clinical Case. The article presents two clinical observations of a severe course of non-compaction cardiomyopathy with remodeling of the heart cavities according to the dilated phenotype. In order to clarify the disease etiology, a molecular genetic study was conducted using the method of direct automatic sequencing with the analysis of targeted regions of 404 genes which mutations are described in hereditary diseases of the heart and blood vessels. After verifying the mutation (in the ACTC1 and MYBPC3 genes), we performed a search for the detected nucleotide substitution in the venous blood samples of parents and in one case — in the fetal DNA sample. The mode of inheritance has been determined; the probability of recurrence of the disease in siblings in subsequent pregnancies has been estimated.Conclusion. The description of clinical cases shows the importance of genetic verification of the diagnosis in patients with non-compaction cardiomyopathy for determining the disease prognosis and developing an algorithm for monitoring relatives of a proband.

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