scholarly journals CLINICAL CASES OF BULLOUS EPIDERMOLYSIS IN NEWBORNS

2020 ◽  
Vol 10 (4(38)) ◽  
pp. 87-91
Author(s):  
O. Rubina ◽  
K. Bertsun ◽  
O. Izyumetsʹ ◽  
R. Gomon ◽  
A. Zadorozhna
Keyword(s):  
Basement Membrane ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Multidisciplinary Care ◽  
Basal Membrane ◽  
Dna Diagnosis ◽  
Optimal Care ◽  
Mucous Membranes ◽  
Genes Encoding ◽  
Clinical Cases

Summary. Hereditary bullous epidermolysis (BE) is a group of genetically and clinically heterogeneous diseases characterized by the formation of blisters and erosion due to injury on the skin and mucous membranes. Different forms of BE can be accompanied by various extracutaneous complications, such as blisters and erosion on the cornea and mucous membranes, stenoses and strictures of the respiratory system, gastrointestinal tract, urinary system, muscular dystrophy, and malignant tumors. Hereditary bullous epidermolysis is divided into three types, depending on the level of blister formation: simple, borderline, and dystrophic. Simple BE is characterized by the stratification of epidermis due to the keratinocyte cytolysis.  Borderline BE means that blisters are formed at the border of the epidermis and dermis due to the splitting of the lamina of the basement membrane (lamina lucida), while dystrophic BE has blisters that are formed under the dense plate of the basement membrane (lamina densa), which exfoliates the dermis. Currently, mutations have been identified in more than 10 genes encoding the structural proteins of keratinocytes and the basal membrane of the skin and mucous membranes. A common feature of these proteins is their involvement in the formation of strong bonds between the epithelium and the basement membrane. The nature of the mutations and their localization determine the severity of the clinical manifestations of BE. Mutation information is a prerequisite for effective medical and genetic counseling, prenatal and preimplantation DNA diagnosis. Therefore diagnosis and prescribing appropriate treatment and follow-up care is an important task for neonatologists and pediatric dermatologists. As manifestations of hereditary BE are numerous, a specialized center is required for optimal care, where multidisciplinary care will be provided (neonatologists, pediatric surgeons, pediatric dermatologists, etc.). The purpose of clinical observation is to pay attention of specialists to this rare disease, and to present 2 clinical cases of bullous epidermolysis in newborns who were admitted to the anesthesiology and intensive care unit of newborns of Vinnytsia Regional Children's Clinical Hospital almost at the same time.

INHERITED EPIDERMOLYSIS BULLOSA IN NEWBORN (CASE STUDY)

2021 ◽  
Vol 74 (10) ◽  
pp. 2525-2529
Author(s):  
Veronika M. Dudnyk ◽  
Olga I. Izumets ◽  
Oksana S. Rubina ◽  
Valentin H. Furman
Keyword(s):  
Epidermolysis Bullosa ◽  
Malignant Tumors ◽  
Multidisciplinary Care ◽  
Optimal Care ◽  
Appropriate Treatment ◽  
Specialized Center ◽  
Mucous Membranes ◽  
Inherited Epidermolysis Bullosa

Inherited epidermolysis bullosa (IEB) is a group of genetically and clinically heterogeneous diseases characterized by the formation on the skin and mucous membranes blisters and erosion due to injury. Different forms of IEB can be accompanied by various extracutaneous complications, such as blisters and erosion on the cornea and mucous membranes, stenoses and strictures of the respiratory system, gastrointestinal tract, urinary system, muscle dystrophy, and malignant tumors. Therefore diagnosis and prescribing appropriate treatment and follow-up care is an important task for neonatologists and pediatric dermatologists. Because the manifestations of IEB are numerous, a specialized center is required for optimal care, where multidisciplinary care will be provided (neonatologists, pediatric surgeons, pediatric dermatologists, etc.). The purpose of this case report is to pay attention of specialists to a disease that is rare, to present clinical case of IEB in newborn who was admitted to the intensive care unit of newborns of Vinnitsa Regional Children’s Clinical Hospital.

scholarly journals Solid-pseudopapillary neoplasia of the pancreas (analysis of three cases)

2021 ◽  
Vol 180 (4) ◽  
pp. 41-45
Author(s):  
V. M. Durleshter ◽  
S. R. Heinrich ◽  
D. S. Kirakosyan
Keyword(s):  
Postoperative Complications ◽  
Early Diagnosis ◽  
Tumor Size ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Sufficient Information ◽  
Tumor Patients ◽  
The Past ◽  
Observation Period ◽  
Clinical Cases

The objective was to improve the early diagnosis efficiency of large pseudopapillary tumor of pancreas through the demonstration and analysis of three clinical cases.Methods and materials. In this work, the observation period was two years, in which three cases were diagnosed and treated a large number of pseudopapillary tumors.Results. With sufficient information on the characteristics of this disease, over the past 5 years we have had an opportunity to determine a diagnosis in two patients before the tissue examination.Conclusion. The age of patients, clinical manifestations, tumor size and the age of tumor patients are not reliable criteria for predicting the possibility of malignant tumors. Performing the operation in compliance with the principles of radicalism provide the best opportunity for recovery and reduces the early incidence of postoperative complications.

scholarly journals RABBIT POX

1935 ◽  
Vol 62 (3) ◽  
pp. 331-347 ◽  
Author(s):  
Paul D. Rosahn ◽  
Ch'uan-K'uei Hu
Keyword(s):  
Clinical Manifestations ◽  
Nasal Discharge ◽  
Vesicle Formation ◽  
Definite Diagnosis ◽  
Pathological Findings ◽  
Papular Eruption ◽  
Mucous Membranes ◽  
Etiological Agents ◽  
Microscopic Pathology ◽  
Local Necrosis

Observations on an epidemic of rabbit pox occurring in an isolated animal room during the winter of 1933–34 are reported. The clinical manifestations, consisting of a generalized papular eruption involving the skin and mucous membranes, together with blepharitis, ophthalmia, nasal discharge and lymphadenopathy were essentially similar to those noted in a pox epidemic of the previous year. This was true in general also of the pathological findings except that vacuolization, local necrosis and vesicle formation were seen in the epidermis, while in the previous year the microscopic pathology in the skin was confined to the corium. Evidence was presented indicating that the infection can be transmitted through the medium of a personal carrier, and that transmission in this manner can occur during the incubation period or before a definite diagnosis is possible. The findings also demonstrated that the etiological agents responsible for the disease reported here and that of the previous year were immunologically related, and that the immunity in recovered animals effectively persisted during the entire period for which data are available, 9 to 12 months. It appeared also that young animals suckling an immune doe were more refractory to the development of the lesions of rabbit pox than were the young of susceptible does.

scholarly journals Occurrence of Genes Encoding Virulence Factors in Bordetella Bronchiseptica Strains Isolated from Infected and Healthy Pigs

2012 ◽  
Vol 56 (4) ◽  
pp. 483-487 ◽  
Author(s):  
Katarzyna Stępniewska ◽  
Iwona Markowska-Daniel
Keyword(s):  
Health Status ◽  
Virulence Factors ◽  
Bordetella Bronchiseptica ◽  
Atrophic Rhinitis ◽  
Genes Encoding ◽  
Progressive Atrophic Rhinitis ◽  
Swine Herds ◽  
Clinical Cases

Abstract The objective of the study was to determine genotypic profiles of Bordetella bronchiseptica (Bbr) strains, based on the occurrence of genes encoding virulence factors, such as flagella (fla), dermonecrotoxin (dnt), and exogenous ferric siderophore receptor (bfrZ), using PCR. 209 tested Bbr strains were obtained from Polish swine herds with different health status (with progressive atrophic rhinitis - PAR, suspected for PAR, and unknown). In total, seven different Bbr genotypes were determined. In 39.2% of Bbr isolates all three genes were present. In 41.1% of the isolates only two genes were detected. The most common genotype dnt+bfrZ-fla+ was present in 60 (28.5%) Bbr strains, 65% of them were obtained from farms with PAR. Twenty five (12%) Bbr isolates were identified as dnt-bfrZ+fla+ genotype and, as above, they were more frequently isolated from clinical cases of disease (84%). Among 31 (14.8%) strains only fla gene was evident, and in nine (4.3%) only dnt gene was present. There were no Bbr strains with bfrZ gene only. These results confirm the heterogenicity among Bbr strains.

scholarly journals MANAGEMENT OF ENDOCRINE DISEASE: Pituitary tumour apoplexy

2015 ◽  
Vol 172 (5) ◽  
pp. R179-R190 ◽  
Author(s):  
Cristina Capatina ◽  
Warrick Inder ◽  
Niki Karavitaki ◽  
John A H Wass
Keyword(s):  
Elective Surgery ◽  
Visual Fields ◽  
Clinical Manifestations ◽  
Pituitary Tumour ◽  
Clinical Syndrome ◽  
Electrolyte Balance ◽  
Pituitary Mass ◽  
Optimal Care ◽  
Wide Range

Pituitary tumour apoplexy (PA) is a rare clinical syndrome that occurs as a result of acute haemorrhage and/or infarction within a frequently undiagnosed pituitary tumour. The sudden enlargement of the pituitary mass undergoing PA is responsible for a wide range of acute symptoms/signs (severe headache, visual loss, diplopia, hypopituitarism, impaired consciousness) which, together with the radiological evidence of a pituitary lesion, establish the diagnosis. The optimal care of PA requires involvement of a multidisciplinary team including endocrinologist, neurosurgeon, neuroophthalmologist and the management strategy that depends on the clinical manifestations, as well as the presence of co-morbidities. Prompt surgical decompression is initially indicated in cases with severe or progressive impairment of the visual acuity or the visual fields or with altered mental state and leads to visual and neurological recovery in most of the patients. The patients with mild, stable clinical picture (including those with isolated ocular palsies) can be managed conservatively (support of fluid and electrolyte balance and stress doses of steroids in most cases) with favourable visual and neurological outcome. Frequent reassessment is mandatory because the clinical course can be unpredictable; if progression of symptoms occurs, later elective surgery is indicated and is beneficial, especially in terms of visual outcome. The endocrinological outcome is less favourable, irrespective of the treatment option, with many patients remaining on long-term replacement therapy. Despite the above guidelines, clear proof of optimal outcomes in the form of randomised controlled trials is lacking. Regrowth of the pituitary tumour years after a PA episode is possible and patients require long-term surveillance.

scholarly journals CLONING OF GENES ENCODING TRANSMEMBRANE PROTEINS AND PROTEINS RESPONSIBLE FOR AFRICAN SWINE FEVER VIRUS VIRULENCE

2018 ◽  
pp. 8-12
Author(s):  
Ali Mazloum ◽  
N. G. Zinyakov ◽  
A. S. Igolkin ◽  
N. N. Vlasova
Keyword(s):  
Recombinant Protein ◽  
Clone Library ◽  
African Swine Fever Virus ◽  
Clinical Manifestations ◽  
Transmembrane Proteins ◽  
African Swine Fever ◽  
Virus Infectivity ◽  
Reference Laboratory ◽  
Genes Encoding

Results of cloning X69R, A179L, E248R, I215L and DP96R genes of ASF virus Krasnodar 07/17 isolate and analysis of their nucleotide sequences are presented. Obtained clones were added to the previously constructed clone library comprising clones of 8 genes of Krasnodar 06/12 isolate. Clones containing X69R, A179L, E248R, I215L and DP96R genes of ASF virus Krasnodar 07/17 isolate will be used for recombinant protein obtaining and testing for their effect on in vitro virus reproduction and their role in the virus infectivity, level of clinical manifestations and virulence. Prokaryotic vector, pJET1.2/ blunt, was used. Thus, the clone library available at the FGBI “ARRIAH” Reference Laboratory for African swine fever was supplemented by pJET1.2-X69R, pJET1.2-A179L, pJET1.2-E248R, pJET1.2-I215L and pJET1.2-DP96R plasmid constructions containing 5 genes of ASF virus Krasnodar 07/17 isolate. Proportion of cloned virus genes was 3.01% of Krasnodar 07/17 isolate genome, hence, total amount of the clone library has reached 7.82%.

scholarly journals Blueberry muffin syndrome in a newborn

2020 ◽  
Vol 15 (4) ◽  
pp. 100-104
Author(s):  
M.A. Ufimtseva ◽  
◽  
Yu.M. Bochkarev ◽  
A.U. Sabitov ◽  
K.I. Nikolaeva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Key Words ◽  
Treatment Initiation ◽  
Neonatal Period ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Intrauterine Infection ◽  
Extramedullary Hematopoiesis ◽  
Timely Treatment ◽  
Torch Infections

We report a case of blueberry muffin syndrome, a rare dermatosis that occurs during the neonatal period. This syndrome is particularly interesting because, despite similar clinical manifestations, it may have various pathological mechanisms and, therefore, requires differential diagnosis. Awareness of doctors of different specialties about clinical manifestations of blueberry muffin syndrome will ensure correct differential diagnosis, timely treatment initiation, no unnecessary therapy, and exclusion of malignant tumors in a child. Key words: neonatal period, blueberry muffin, intrauterine infection of the fetus, TORCH infections, extramedullary hematopoiesis

scholarly journals Expression of the apoptosis-releated genes in patients with newly diagnosed chronic lymphocytic leukemia in clinical data context

2018 ◽  
Vol 17 (2) ◽  
pp. 41-46 ◽  
Author(s):  
S. G. Zakharov ◽  
A. K. Golenkov ◽  
A. V. Misyurin ◽  
E. V. Kataeva ◽  
A. A. Rudakova ◽  
...  
Keyword(s):  
Gene Expression ◽  
Clinical Manifestations ◽  
Multivariate Regression Analysis ◽  
Lymphocytic Leukemia ◽  
Newly Diagnosed ◽  
Expression Of Genes ◽  
Gene Level ◽  
Genes Encoding ◽  
Group Ii ◽  
High Level

Introduction.The given data of fundamental studies of apoptosis processes in B-cell lymphocytic leukemia (B-CLL) testifies about the complexity and variety of mechanisms affecting the kinetics of normal cells and tumor lymphocytes in this disease. It is important to study the severity of clinical manifestations of the disease depending on the expression of the genes that modulate apoptosis.The purposeof the study is to compare the activity of genes encoding apoptosis modulators, the cell cycle and cancer-testicular PRAME protein with clinical manifestations of the disease in primary patients with B-CLL.Materials and methods.The level of expression of the proapoptotic genes FAS, TRAIL, TNFR2, DR4/5 and DR3, as well as the HSP27, XIAP genes, blocking apoptosis was determined in 23 patients with newly diagnosed chronic B-CLL. In addition, expression of genes TP53 and P21 and cancer-testis gene PRAME are tested.Results.According to the multivariate regression analysis, the FAS gene expression in the onset of the disease had the greatest impact on the clinical characteristics of the disease. In this connection, the patients were divided into groups with normal (group) and low gene level (group II). A low level of FAS expression (Me 387 %) was associated with stage II disease (p = 0.03), a large number of lympho cytes (p = 0.001), fewer erythrocytes (p = 0.08), and a lower level of TNFR2 gene expression (p = 0.08), high level of expression of XIAP, HSP27, P21. Overall, the anti-apoptotic potential in Group II patients was higher, which was accompanied by more pronounced clinical manifestations of the disease.Conclusions.The increased anti-apoptotic potential of tumor lymphocytes in newly diagnosed B-CLL is accompanied by a larger tumor mass and greater clinical and hematological manifestation of the disease.

scholarly journals Multidisciplinary care in Stevens-Johnson syndrome

2020 ◽  
Vol 11 ◽  
pp. 204062231989446 ◽  
Author(s):  
Swapna S. Shanbhag ◽  
James Chodosh ◽  
Cherie Fathy ◽  
Jeremy Goverman ◽  
Caroline Mitchell ◽  
...  
Keyword(s):  
Supportive Care ◽  
Toxic Epidermal Necrolysis ◽  
Oral Mucosa ◽  
Acute Phase ◽  
Multidisciplinary Care ◽  
Stevens Johnson Syndrome ◽  
Chronic Complications ◽  
Optimal Care ◽  
Johnson Syndrome ◽  
Organ Systems

Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are potentially fatal mucocutaneous diseases that can involve many organ systems. Manifestations of SJS/TEN outside of the skin, eyes, and oral mucosa are not well defined or well recognized, and, therefore, are often not addressed clinically. As supportive care improves and mortality from SJS/TEN decreases, chronic complications in affected organ systems are becoming more prevalent. Recognition of the manifestations of SJS/TEN in the acute phase is critical to optimal care. In this review, we review the organ systems that may be involved in SJS/TEN, provide an overview of their management, and propose a list of items that should be communicated to the patient and family upon discharge. The organ systems discussed include the pulmonary, gastrointestinal/hepatic, oral, otorhinolaryngologic, gynecologic, genitourinary, and renal systems. In addition, the significant psychosocial, nutritional, and pain consequences and management of SJS/TEN are discussed.

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