Tuberculosis Uveitis: Clinical Findings, Diagnosis, and Treatment

2019 ◽  
pp. 290-299
Keyword(s):  
Imaging Techniques ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Classification Systems ◽  
Ocular Involvement ◽  
New Classification ◽  
Duration Of Treatment ◽  
High Index Of Suspicion ◽  
Microbiological Confirmation

Tuberculosis (TB) is a chronic systemic infectious disease that primarily affects lungs but may also affect extrapulmonary organs including the eye. TB uveitis is the most common presentation of ocular involvement and has variable clinical features. Active systemic TB may not always accompany the ocular disease. A high index of suspicion based on typical clinical manifestations is important in diagnosis. In recent years new classification systems including, clinical signs, microbiological confirmation, immunological evidence, and imaging techniques have been suggested for diagnosing intraocular TB. Longer duration of treatment with ATT results in good clinical response.

Clinical Significance of Cryofibrinogenemia: Possible Pathophysiological Link with Raynaud’s Phenomenon

2011 ◽  
Vol 39 (1) ◽  
pp. 119-124 ◽  
Author(s):  
MUHAMMAD S. SOYFOO ◽  
AHMED GOUBELLA ◽  
ELIE COGAN ◽  
JEAN-CLAUDE WAUTRECHT ◽  
ANNICK OCMANT ◽  
...  
Keyword(s):  
Raynaud’S Phenomenon ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Clinical Findings ◽  
University Hospital ◽  
Significant Difference ◽  
Primary Raynaud’S Phenomenon ◽  
The Mean ◽  
Mean Concentration

Objective.To describe the clinical findings and prevalence of patients with cryofibrinogenemia (CF) and to determine whether CF is associated with primary Raynaud’s phenomenon.Methods.Between June 2006 and December 2009, 227 patients were tested for CF in a single university hospital. Forty-five patients with primary Raynaud’s phenomenon were tested for CF.Results.A total of 117 patients with CF without cryoglobulinemia were included. The main clinical manifestations included skin manifestations (50%) and arthralgia (35%). There were 67 patients with primary CF and 50 patients with secondary CF. There was no significant difference in the mean concentration of the cryoprecipitate in primary CF as compared to the secondary form (172 ± 18.6 vs 192 ± 20.9 mg/dl, respectively; p = 0.41). Highest concentrations of cryoprecipitate were observed in those containing fibrinogen only as compared to cryoprecipitates containing fibrinogen and fibronectin (301 ± 43.5 vs 125 ± 10.6 mg/dl; p < 0.001). Patients having skin necrosis (n = 3) had significantly higher values of cryofibrinogen compared to those without necrosis (638 ± 105 vs 160 ± 10.2 mg/dl; p = 0.0046). Among the 45 patients with primary Raynaud’s phenomenon, 36 had associated CF. There was no significant difference in the mean concentration of the cryoprecipitate in these patients compared to those with primary CF.Conclusion.There seems to be a significant correlation between cryofibrinogen concentration and the severity of the clinical signs, particularly when cryoprecipitate is composed of fibrinogen alone. CF might have a possible pathophysiological role in primary Raynaud’s phenomenon.

scholarly journals Compulsive Disorder in Border Collie bitch

2019 ◽  
Vol 47 ◽  
Author(s):  
Isabel Rodriges Rosado ◽  
Juliana Gonzaga Da Silva ◽  
Dilmas Mendes De Freitas ◽  
Aline Silva Dos Reis ◽  
Julia Perinotto Picelli ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Repetitive Behaviors ◽  
Duration Of Treatment ◽  
Presumptive Diagnosis ◽  
Genetic Characteristics ◽  
Compulsive Disorder ◽  
Compulsive Disorders

Background: Compulsive disorders are excessive and repetitive behaviors that jeopardize the quality of life of both animal and tutor. It generally affects dogs between 6 and 36 months of age, and its etiology is associated to stress, anxiety and genetic predisposition. Clinical manifestations are the usual behaviors of the dog, but overly and inappropriately done. Diagnosis is based on a history of repetitive behavior, and on clinical and complementary exams to discard other diseases. The aim of this study is to report a case of compulsive disorder in a female Border Collie dog, including diagnostic and therapeutic approaches.Case: A 5-month-old, female, Border Collie dog was presented to Uberaba’s Veterinary Hospital (HVU) owing to a chasing shadows behavior that started as a playtime activity but intensified to the point of becoming a repetitive and excessive act, followed by self-trauma and excessive barking. Clinical examination showed lesions in nasal planum region. No alterations were observed on neurological examination apart from the chasing of shadows that also happened in the consultation room. Therefore, since there were no other findings on clinical and neurological exams, and since the manifestation occurred as a response to environmental stimuli (presence of shadows), it was established a presumptive diagnosis of compulsive disorder. Treatment with trazodone chlorhydrate was performed, and it was indicated ovariohysterectomy, a follow-up with a professional behaviorist and trainer and environment modifications.  After a fortnight, it was observed a discreet improvement of the clinical signs, hence a second anxiolytic, clomipramine, was added to the treatment. Approximately 3 months after the beggining of therapy, there was improvement of the animal’s clinical picture, being calmer and most days ignoring the shadows.Discussion: Compulsive disorders are described as exaggerated and repetitive behaviors that jeopardize the animal’s interaction with its environment and with its tutor. The animal of this report showed repetitive behavior of chasing shadows, with claw abrasion and self-inflicted nasal lesions caused by leaping and biting on the surfaces where the shadows were projecting. Additionally, during the manifestation of the behavior, the animal barked excessively, which compromised the quality of the tutors’ lives. The patient was a Border Collie female dog, though there are no descriptions of this type of behavior in this breed. The starting age of this patient’s manifestations is consistent with previous reports, which observed it more frequently in animals with 6 to 36 months of age. The absence of alterations on clinical and neurological exams that could indicate maladies in other systems, in addition to a detailed anamnesis and assessment of videos of the animal recorded in his domicile, enabled the diagnosis of compulsive disorder. Ovariohysterectomy was done with the purpose of reducing the previously mentioned behavior. Drug therapy in addition to behavior training were efficient to promote significant improvement, although the duration of treatment is a long-term one, as described by other authors. Further studies are necessary for enlightenment of compulsive disorder’s physiopathology in dogs, and to investigate and identify the causes, such as environmental factors and genetic characteristics, that trigger these behaviors.

scholarly journals Follow-up survey of the prevalence, diagnosis, clinical manifestations and treatment of Spirocerca lupi in South Africa

2014 ◽  
Vol 85 (1) ◽  
Author(s):  
Remo Lobetti
Keyword(s):  
South Africa ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Seasonal Distribution ◽  
Diagnostic Methods ◽  
Post Mortem ◽  
Spirocerca Lupi ◽  
Important Disease

Spirocercosis is an important disease in South Africa. The object of this study was to determine if there had been a change in the prevalence, clinical manifestations and treatment of Spirocerca lupi over a 14-year period. A questionnaire was sent to 577 veterinary practices throughout South Africa in 2012. Of responders, 76% indicated that S. lupi occurred in their area, whilst 24% indicated that it did not; 84% considered S. lupi not to be a new phenomenon, whereas 16% considered it to be new. Monthly or seasonal distribution of the disease was not reported, and 76% of responders reported it to occur in no specific breed of dog, whereas 24% reported a breed risk, most considering large breeds to be at greater risk. No specific age or sex was identified as at higher risk. Common owner complaints were vomiting, weight loss, cough, or regurgitation. Reported clinical findings tended to mirror the clinical signs reported by owners. Most common diagnostic methods used were radiology, endoscopy, faecal flotation, and post mortem examination. Forty-four percent did not report seeing asymptomatic cases, 40% reported asymptomatic cases and 16% did not know. Associated complications were reported by 85% of responders, and included oesophageal neoplasia, hypertrophic osteopathy and acute haemothorax. Four different drugs were used as therapy: doramectin, ivermectin, milbemycin and Advocate®, with 9% of the responders using a combination of these four; 85% considered treatment to be effective and 15% ineffective. Treatment was considered more effective if the disease was diagnosed early and there were no complications. Two important conclusions were that more cases are being seen and that efficacy of therapy has increased, with a decrease in the mortality rate.

scholarly journals Histologic identification of intraocular Cytauxzoon felis in three cats

2018 ◽  
Vol 4 (2) ◽  
pp. 205511691881324
Author(s):  
Jessica Meekins ◽  
Ada G Cino-Ozuna
Keyword(s):  
Blood Vessels ◽  
Clinical Signs ◽  
Case Series ◽  
Clinical Findings ◽  
Ocular Involvement ◽  
State University ◽  
Diagnostic Laboratory ◽  
Uveal Tract ◽  
Cytauxzoon Felis ◽  
Kansas State University

Case series summary A 5-month-old male intact domestic shorthair (DSH) cat (cat 1), a 1-year-old male neutered DSH cat (cat 2) and a 1.5-year-old female spayed DSH cat (cat 3) were submitted for gross necropsy after acute death, with the clinical suspicion of cytauxzoonosis. All three cats displayed signs of rapidly progressive clinical deterioration, including lethargy, anorexia, and hyper- or hypothermia. Cat 1 was euthanized owing to the grave prognosis for survival, whereas cats 2 and 3 were found dead 1–4 days after the onset of clinical signs. Remains were submitted to the Kansas State University Veterinary Diagnostic Laboratory for gross necropsy. In all three cats, general examination findings included icterus of the mucous membranes, multifocal pulmonary parenchymal hemorrhages, and splenic reddening and enlargement. Histologic examination revealed macrophages laden with protozoal schizonts diffusely distributed within blood vessels and vascular spaces of all affected organs, including the blood vessels of the uveal tract. The ciliary body within the anterior uveal tract was most affected. Relevance and novel information This is the first description of cytauxzoonosis affecting the eyes of infected cats. This report confirms involvement of ocular blood vessels similar to the classic lesions of the lungs, spleen and liver. In cats presenting with a history and clinical findings suggestive of cytauxzoonosis, complete ophthalmic examination is indicated to confirm or rule out ocular involvement.

Anatomic Distribution and Clinical Findings of Intermuscular Lipomas in 17 Dogs (2005–2010)

2012 ◽  
Vol 48 (4) ◽  
pp. 245-249 ◽  
Author(s):  
J. Brad Case ◽  
Catriona M. MacPhail ◽  
Stephen J. Withrow
Keyword(s):  
Surgical Treatment ◽  
Operative Time ◽  
Imaging Techniques ◽  
Clinical Signs ◽  
Surgical Excision ◽  
Clinical Findings ◽  
Anatomical Location ◽  
Thoracic Limb ◽  
Anatomic Distribution ◽  
Pelvic Limb

Intermuscular lipomas (IML) in dogs can be associated with ominous clinical signs, especially in the thoracic limb. However, the prognosis is excellent following surgical excision. There is a paucity of information in the veterinary literature regarding IML. Our objective was to describe the anatomical location, imaging techniques, and clinical findings in a series of dogs that were diagnosed and treated for IML. The prevalence of thoracic versus pelvic limb IML was not different. Most IML of the thoracic limb were located in the axilla. Operative time for IML of the thoracic and pelvic limb averaged 60 minutes. Complications were rare after marginal surgical excision and recurrence was not seen in any of the cases in this report. Intermuscular lipomas of the axilla are as common as IML of the caudal thigh. Surgical treatment of both axillary and caudal-thigh IML is associated with an excellent prognosis in dogs.

scholarly journals Symptoms of Neonatal Pneumonia and Results of Its Treatment in Bac Ninh Obstetrics and Pediatrics Hospital

2019 ◽  
Vol 35 (1) ◽  
Author(s):  
Pham Trung Kien ◽  
Nguyen Nhu Truong ◽  
Nguyen Minh Hiep ◽  
Vu Thi Phuong
Keyword(s):  
White Blood Cells ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Preterm Neonates ◽  
Duration Of Treatment ◽  
Term Infants ◽  
Cross Sectional ◽  
Female Ratio ◽  
Prognostic Features ◽  
Factors Associated

This descriptive study describes clinical and subclinical symptoms of neonatal pneumonia and evaluates the results of its treatment in Bac Ninh Obstetrics and Pediatrics Hospital. In this study, 200 children diagnosed with neonatal pneumonia were treated in the hospital from May 1, 2018 to May 1, 2019. Among the patients, 57.0% were male; the male/female ratio was 1.33. There were 67/200 (33.5%) patients aged 0-7 days with 13.5% of whom were preterm neonates. In preterm infants, the most common clinical signs were cough (96.4%), tachypnea (42.9%), wheezing (89.3%), recessive (35.7%), scattered bibasilar rales (85.7%), cyanosis (32.1%), and apnea (21.4%). In full-term infants, the most common symptoms were cough (89.5%), cyanosis (6.9%), recessive (18.6%), and scattered bibasilar rales (77.9%). There were 28.5% of the patients with unstable white blood cells; 26.0% of the children had increased CRP. The most common antibiotic formula was Cefalosporin + Amikacin used in 30% of the cases. 121/200 cultured cases were positive, of which 35.5% was K. pneumoniae, 27.3% was H.influenzae, 21.5% was E.coli, and 14.0% was S.aureus. The average duration of treatment was 8.6 ± 3.8 days. The study concludes that neonatal pneumonia was more common in male children; the main clinical manifestations were coughing, rapid breathing, small granules; and a combination of antibiotics was effective in treating neonatal pneumonia. Keywords Neonatal pneumonia, tachypnea, apnea, use of antibiotics. References [1] Khu Thị Khánh Dung, Nghiên cứu đặc điểm lâm sàng vi khuẩn và một số yếu tố liên quan đến viêm phổi sơ sinh, Luận án Tiến sĩ Y học, Trường Đại học Y Hà Nội, (2003).[2] Nguyễn Tuấn Ngọc, Cơ cấu và căn nguyên nhiễm khuẩn sơ sinh tại Khoa Nhi Bệnh viện Đa khoa Trung ương Thái Nguyên, Tạp chí Y học thực hành. 678 (2009) 7-10.[3] Friedrich Reiterer, Neonatal Pneumonia, in: B.Resch, Neonatal Bacterial Infection, Intech Open, London, 2013, pp.20 - 32.[4] Chao-Jen Lin and et.al, Radiographic, clinical, and prognostic features of complicated and uncomplicated community-acquired lobar pneumonia in children, J Microbiol Immunol Infect. 39 (2007) 489-495.[5] David Martin le Roux, Heather Zar, Community-acquired pneumonia in children - a changing spectrum of disease, Pediatric Radiology. 47 (2017) 1392 – 1398. https://doi.org/10.1007/s00247-017-3827-8.[6] Sreekumaran Nair, Leslie Edward Lewis, and et.al, Factors associated with neonatal pneumonia in India: protocol for a systematic review and planned meta-analysis, BMJ Open. 8 (2018) 1-5. https://doi.org/10.1136/bmjopen-2017-018790.[7] Nguyễn Thị Kim Anh, Phạm Thị Minh Hồng, Đặc điểm viêm phổi sơ sinh tại bệnh viện Nhi Đồng 2 từ 3/2007 đến 10/2007, Tạp chí Y học Thành Phố Hồ Chí Minh. 13 (2009), 1-7.[8] Lihong Yang and et.al, Prevalence and risk factors of neonatal pneumonia in China: A longitudinal clinical study, Biomedical Research. 29 (2018) 57 - 60.[9] Shah Shetal and et.al, Factors associated with mortality and length of stay in hospitalised neonates in Eritrea, Africa: a cross-sectional study, BMJ Open. 2 (2012) 1-9. https://doi.org/10.1136/bmjopen-2011-000792.[10] Đỗ Thị Bích Vân và cộng sự, Nhận xét kết quả của vỗ rung liệu pháp trong điều trị viêm phổi sơ sinh không thở máy tại Bệnh viện Nhi Trung ương, Tạp chí Y học Thành Phố Hồ Chí Minh. 16 (2012) 93-97.[11] Vũ Thị Phương, Nghiên cứu nguyên nhân vi khuẩn gây bệnh, kết quả điều trị và một số yếu tố liên quan đến tử vong trong viêm phổi sơ sinh tại bệnh viện Trẻ em Hải Phòng năm 2011, Luận văn Thạc sĩ y học, Trường Đại học Y Hải Phòng (2012).  

scholarly journals Clinical manifestation and methods of treatment of pododermatitis in dogs

2021 ◽  
Vol 24 (1) ◽  
pp. 29-35
Author(s):  
Inna Yevtushenko ◽  
Dmytro Bilyi ◽  
Olesya Tsymerman ◽  
Anastasia Nepochatova
Keyword(s):  
Skin Diseases ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Absolute Number ◽  
Blood Parameters ◽  
Duration Of Treatment ◽  
Malassezia Pachydermatis ◽  
Plantar Surface ◽  
Superficial Skin

This paper provides data on the clinical signs of pododermatitis in dogs and also investigates effective treatment regimens. The urgency of the stated problem is due to the growing incidence of pododermatitis in dogs, its polyetiological nature, which requires a multifaceted approach to diagnostics and the introduction of effective treatments methods. Thereby, the purpose of the study was to investigate the clinical manifestations of skin diseases of the distal extremities in dogs and to determine the efficacy of complex therapy of pododermatitis. The studies were based on clinical research methods in dermatology, parasitological (skin scraping), bacteriological, and mycological (seeding on nutrient media with subsequent isolation of the pathogen) surveys. Based on the findings of the study, the absolute number of cases revealed lesions of 2 paws (53.3%), much less often – all 4 limbs (26.7%). It was found that mainly localisation of superficial skin lesions was found in 56.2% in the area of the interdigital space and 43.7% of cases – only on the plantar surface of the pastern (metatarsus), rarely – inflammation of the claw phalanx (31.2%). The main clinical signs of dermatitis of the distal extremities in dogs were erosive and ulcerative inflammation, alopecia, papules and pustules filled with purulent exudate, erythematous inflammation, haemorrhage, areas of lichenification. Studies on the treatment of dogs with pododermatitis caused by Staphylococcus intermedius, Demodex canis and Malassezia pachydermatis have shown the following: introduction of drugs Bravecto, Cefuroxime, Orungal, Apoquel and Derinat increased the efficacy of therapy in animals of the experimental group, as compared with the control (from 28.6% to 66.7%), reducing the duration of treatment to 21 days (p˂0.01) and extending the remission period to an average of 185 days (p˂0.01). The prospect of further research is the unification of clinical, morphological, and biochemical blood parameters as diagnostic criteria for pododermatitis in dogs

Common variable immunodeficiency in adults

2016 ◽  
Vol 88 (11) ◽  
pp. 94-98
Author(s):  
N V Shabashova ◽  
L V Filippova ◽  
A E Uchevatkina ◽  
E V Frolova
Keyword(s):  
Primary Immunodeficiency ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Intravenous Immunoglobulins ◽  
Primary Immunodeficiency Disease ◽  
Clinical Findings ◽  
Health Study ◽  
Healthcare Facilities ◽  
Expert Opinions ◽  
Common Variable

The paper analyzes 7 cases of common variable immune deficiency (CVID), a primary immunodeficiency disease. All the cases were detected in outpatients over the age of 40 years. The diagnosis was based on their history data and general clinical findings with due regard for the results of previously conducted functional studies, expert opinions, and the results of immunological studies including the quantitative and functional indices of T and B cells, phagocytes and the levels of immunoglobulins. The analysis showed that the early signs of impaired immunity in all the patients were seen by physicians of various specialties in both outpatient and inpatient settings. Generalizing of all information about the patient could become the basis for a simple and accessible practical public-health study of immunoglobulins levels significantly sooner than this diagnosis being verified. This testifies that the physicians of various specialties are partially aware of the clinical signs of immunodeficiency states and that there is a need for a clinical immunologist in adult healthcare facilities. This is especially important since the early clinical manifestations of both primary immunodeficiency disorders that are increasingly frequently detected and nonhereditary – secondary ones can be very similar. The timely verification of the diagnosis is necessary for prescribing adequate therapy with intravenous immunoglobulins to prevent severe chronic pyoinflammatory lung disease and disability in patients with CVID.

Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  
Keyword(s):  
Megaloblastic Anemia ◽  
Maternal Diet ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Failure To Thrive ◽  
Clinical Findings ◽  
Vitamin B ◽  
Animal Products ◽  
Hematological Evaluation ◽  
Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

Search for mutations of the interferon-induced transmembrane protein 5 (IFITM5) gene in patients with osteogenesis imperfecta

2019 ◽  
pp. 21-29
Author(s):  
А.Р. Зарипова ◽  
Л.Р. Нургалиева ◽  
А.В. Тюрин ◽  
И.Р. Минниахметов ◽  
Р.И. Хусаинова
Keyword(s):  
Osteogenesis Imperfecta ◽  
De Novo ◽  
Transmembrane Protein ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Heterozygous Mutation ◽  
Type I ◽  
New Genes ◽  
Wide Range ◽  
Type V

Проведено исследование гена интерферон индуцированного трансмембранного белка 5 (IFITM5) у 99 пациентов с несовершенным остеогенезом (НО) из 86 неродственных семей. НО - клинически и генетически гетерогенное наследственное заболевание соединительной ткани, основное клиническое проявление которого - множественные переломы, начиная с неонатального периода жизни, зачастую приводящие к инвалидизации с детского возраста. К основным клиническим признакам НО относятся голубые склеры, потеря слуха, аномалия дентина, повышенная ломкость костей, нарушения роста и осанки с развитием характерных инвалидизирующих деформаций костей и сопутствующих проблем, включающих дыхательные, неврологические, сердечные, почечные нарушения. НО встречается как у мужчин, так и у женщин. До сих пор не определена степень генетической гетерогенности заболевания. На сегодняшний день известно 20 генов, вовлеченных в патогенез НО, и исследователи разных стран продолжают искать новые гены. В последнее десятилетие стало известно, что аутосомно-рецессивные, аутосомно-доминантные и Х-сцепленные мутации в широком спектре генов, кодирующих белки, которые участвуют в синтезе коллагена I типа, его процессинге, секреции и посттрансляционной модификации, а также в белках, которые регулируют дифференцировку и активность костеобразующих клеток, вызывают НО. Мутации в гене IFITM5, также называемом BRIL (bone-restricted IFITM-like protein), участвующем в формировании остеобластов, приводят к развитию НО типа V. До 5% пациентов имеют НО типа V, который характеризуется образованием гиперпластического каллуса после переломов, кальцификацией межкостной мембраны предплечья и сетчатым рисунком ламелирования, наблюдаемого при гистологическом исследовании кости. В 2012 г. гетерозиготная мутация (c.-14C> T) в 5’-нетранслируемой области (UTR) гена IFITM5 была идентифицирована как основная причина НО V типа. В представленной работе проведен анализ гена IFITM5 и идентифицирована мутация c.-14C>T, возникшая de novo, у одного пациента с НО, которому впоследствии был установлен V тип заболевания. Также выявлены три известных полиморфных варианта: rs57285449; c.80G>C (p.Gly27Ala) и rs2293745; c.187-45C>T и rs755971385 c.279G>A (p.Thr93=) и один ранее не описанный вариант: c.128G>A (p.Ser43Asn) AGC>AAC (S/D), которые не являются патогенными. В статье уделяется внимание особенностям клинических проявлений НО V типа и рекомендуется определение мутации c.-14C>T в гене IFITM5 при подозрении на данную форму заболевания. A study was made of interferon-induced transmembrane protein 5 gene (IFITM5) in 99 patients with osteogenesis imperfecta (OI) from 86 unrelated families and a search for pathogenic gene variants involved in the formation of the disease phenotype. OI is a clinically and genetically heterogeneous hereditary disease of the connective tissue, the main clinical manifestation of which is multiple fractures, starting from the natal period of life, often leading to disability from childhood. The main clinical signs of OI include blue sclera, hearing loss, anomaly of dentin, increased fragility of bones, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, and renal disorders. OI occurs in both men and women. The degree of genetic heterogeneity of the disease has not yet been determined. To date, 20 genes are known to be involved in the pathogenesis of OI, and researchers from different countries continue to search for new genes. In the last decade, it has become known that autosomal recessive, autosomal dominant and X-linked mutations in a wide range of genes encoding proteins that are involved in the synthesis of type I collagen, its processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells cause OI. Mutations in the IFITM5 gene, also called BRIL (bone-restricted IFITM-like protein), involved in the formation of osteoblasts, lead to the development of OI type V. Up to 5% of patients have OI type V, which is characterized by the formation of a hyperplastic callus after fractures, calcification of the interosseous membrane of the forearm, and a mesh lamellar pattern observed during histological examination of the bone. In 2012, a heterozygous mutation (c.-14C> T) in the 5’-untranslated region (UTR) of the IFITM5 gene was identified as the main cause of OI type V. In the present work, the IFITM5 gene was analyzed and the de novo c.-14C> T mutation was identified in one patient with OI who was subsequently diagnosed with type V of the disease. Three known polymorphic variants were also identified: rs57285449; c.80G> C (p.Gly27Ala) and rs2293745; c.187-45C> T and rs755971385 c.279G> A (p.Thr93 =) and one previously undescribed variant: c.128G> A (p.Ser43Asn) AGC> AAC (S / D), which were not pathogenic. The article focuses on the features of the clinical manifestations of OI type V, and it is recommended to determine the c.-14C> T mutation in the IFITM5 gene if this form of the disease is suspected.

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