Medicina Moderna - Modern Medicine最新文献

{"title":"The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome","authors":"I. Focșa, A. Tutulan-Cunita, A. Pavel, Diana Prepelita, D. Bratu, L. Bohiltea, D. Stambouli","doi":"10.31689/rmm.2022.29.3.187","DOIUrl":"https://doi.org/10.31689/rmm.2022.29.3.187","url":null,"abstract":"Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the five human RecQ helicases, RECQL3/BLM. The disorder manifests clinically as growth deficiency, skin anomalies, immunodeficiencies, insulin resistance, and a high predisposition to cancers. Less than 300 patients have been reported so far. In this paper, we report on the first Romanian patient of bi-ethnic origin, molecularly diagnosed with Bloom syndrome. As the most severe complications of the disorder are the malignancies, developing even in childhood, an early diagnosis is essential for further surveillance and therapeutic approach of Bloom patients.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130554902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of Anemia in Rheumatoid Arthritis","authors":"A. Bobircă, A. Florescu, Cristina Alexandru, F. Bobircă, D. Marinescu, A. Mușetescu, M. Bojincă, I. Ancuta","doi":"10.31689/rmm.2022.29.3.205","DOIUrl":"https://doi.org/10.31689/rmm.2022.29.3.205","url":null,"abstract":"Rheumatoid arthritis (RA) is an inflammatory, chronic and systemic disease that primarily affects the synovial joints. Anemia is a common extra-articular manifestation in the absence of an effective treatment. The main mechanisms involved include shortening the lifespan of erythrocytes, inadequate bone marrow and abnormalities in iron metabolism. Eighty-eight patients over 18 years with definite diagnosis of rheumatoid were included in this study. The prevalence, respectively the characteristics of anemia were analyzed, together with demographic data, the type of symptoms, the type of comorbidities, the hematological indices and treatments. The mean age of the study population was 65.31 ± 12.57 years. Treat to target was achieved in one third of the patients (36.4%). The prevalence of anemia was 55% with higher prevalence in males (57%) than females (50%). Anemia was associated with higher disease activity (p=0.036). Out of the anemic patients, 7.14% had megaloblastic anemia, 40.48% had anemia of chronic disease and 21.43% suffered from iron deficiency anemia. Microcytic normochromic and normocytic hypochromic patterns can have mixed causes, belonging to both iron-pathophysiological processes and chronic inflammation. The prevalence of anemia at the 1-year check-up was 29.44% and the percentage of patients who achieved treat-to-target goals increased from 36.40% to 40.90%. The majority (48.80%) did not prove to have anemia neither at admission nor at follow-up. The results of the study suggest that anemic patients tend to have a higher level of RA activity, therefore screening for anemic syndrome should be part of the management of these patients, in an effort to establish the best therapeutic conduct.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123392764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective Analysis of Meningococcal Disease in Transcarpathian Region of Ukraine","authors":"P. Petakh, Vitaliia Isevych, V. Griga","doi":"10.31689/rmm.2022.29.3.199","DOIUrl":"https://doi.org/10.31689/rmm.2022.29.3.199","url":null,"abstract":"Background: Meningococcal infection (MI) is one of the most significant bacterial infections in children, it is characterized by a life-threatening and unpredictable fulminant course in the structure of infectious diseases. MI in Ukraine represents an important cause of mortality. The Transcarpathian region is located on the western boundary of Ukraine with 4 European countries. Such location of the district and its geopolitical issues related to immigration plays a crucial role in disease transmission and serve as a gate to infectious diseases to and from European Union. Methods: This was a retrospective study that included 32 patients with a confirmed diagnosis of meningococcaemias. The data were obtained from patients’ electronic medical records (EMR). Data collected included demographic, clinical, and laboratory. Continuous variables were expressed as means with standard deviations. Categorical variables were summarized as counts and percentages. Results: Meningococcal morbidity in the Transcarpathian region was higher than in the whole of Ukraine in all researched years. Primarily, the highest incidence was recorded in the Perechyn district and in Uzhhorod city. 53% of all cases of MI occur in the period from December to February. The main constant clinical manifestation of the disease was skin symptoms. Conclusions: The incidence rate of MI is an important problem for public health and may pose a threat to neighboring countries. The methods for the prevention of meningococcal infection include antimicrobial chemoprophylaxis following identification of an index case, use of droplet precautions, vaccination prior to exposure, and avoidance of exposure.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116927652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Outcome of Rectal Cancer Patients During SARS-CoV-2 Pandemic","authors":"F. Bobircă, D. Dumitrescu, Lidia Belega, A. Bobircă, T. Pătraşcu","doi":"10.31689/rmm.2022.29.3.235","DOIUrl":"https://doi.org/10.31689/rmm.2022.29.3.235","url":null,"abstract":"Introduction: Rectal cancer is a complex pathology that requires a multidisciplinary approach according to current guidelines, and surgery is one of the main stages of treatment, the type of intervention being established in relation to the location of the tumor at the rectal level. Material and method: The present study aims to analyze the diagnostic features, study the evolution, treatment and complications of patients with rectal cancer in a period marked by the SARS-CoV-2 pandemic. After completing the inclusion criteria, but also the exclusion group, the remaining group consisted of 55 patients with rectal cancer. Results: For the 55 patients, abdominal-pelvic rectal amputation was performed in 17 cases, rectosigmoid resection with colostomy in 13 cases, and rectosigmoid resection with anastomosis in 25 cases. It was also taken into account that the access to medical services was delayed compared to the pre-pandemic period, the increase of the time interval between the treatment stages being an important aspect of the study. Complications associated with surgery have been reported in 13 patients, the most common being the pelvic abscess. Conclusions: The results of the study show a high incidence rate in the age group 60-69 years, with a predominance of males, a delay in making the diagnosis of certainty, an extension of the period from the beginning of neoadjuvant treatment to access to surgery, and the rate of postoperative complications is similar to that described in other studies conducted during the SARS-CoV-2 pandemic, but also outside it.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"36 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115055514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transverse and Sigmoid Venous Sinus Thrombosis Associated with Nephrotic Syndrome","authors":"A. Croitoru, M. Bălgrădean","doi":"10.31689/rmm.2022.29.3.253","DOIUrl":"https://doi.org/10.31689/rmm.2022.29.3.253","url":null,"abstract":"A 6 years old female diagnosed with nephrotic syndrome developed, during her first admission in the hospital, sinus transvers thrombosis. At first it was considered a complication of the disease, but later it was proved that she had hereditary thrombophilia. The major symptom in this case was persistent headache.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132030880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metaplastic Breast Cancer – a Rare, Aggressive Condition with a Poor Prognosis","authors":"A. Albu, Delia Maria Gradinaru, A. Dumitru, M. Sajin, P. Iorga, M. Cirstoiu","doi":"10.31689/rmm.2022.29.3.247","DOIUrl":"https://doi.org/10.31689/rmm.2022.29.3.247","url":null,"abstract":"Metaplastic breast cancer (MBC) is a rare, aggressive form of breast cancer first described by pathologists in 2000. It is usually discovered in advanced stages and has a low survival rate. It is divided into various subtypes: low- grade adenosquamous, fibromatosis-like metaplastic, squamous cell, spindle cell, metaplastic with mesenchymal differentiation (including chondroid, osseous, or other types), mixed metaplastic, and myoepithelial carcinomas. Surgery is the treatment of choice, followed by adjuvant chemotherapy and/or radiotherapy. We present the case of a 44-year-old woman with metaplastic breast cancer, reviewing the characteristics of this condition, the particularities of the case, and the treatment chosen in this particular situation.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"85 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124714925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Follow up Case on Breast Reconstruction with ADM","authors":"Ş. Coman, Horia Toader, Mihai MEHEDINTU-IONESCU","doi":"10.31689/rmm.2021.29.2.155","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.155","url":null,"abstract":"Breast cancer is the most common type of cancer found in women after skin cancer. It is also the second cause of cancer death in women after lung cancer. The incidence of breast cancer has decreased in the last decade due to the discontinuation of hormone replacement therapy in postmenopausal women The majority of women with breast cancer are in an early stage at the moment of detection and are eligible for breast conservation therapy and receive some form of systemic or local adjuvant therapy like chemotherapy or radiotherapy depending on the histological type of the tumor. Acellular dermal matrices or ADM for short are processed dermis that can be used as an adjuvant to local flap reconstruction or as the primary material for reconstruction of the nipple. In this article we discuss the case of a 42 year old woman with breast carcinoma who underwent mastectomy and breast reconstruction with silicone gel implant and ADM and answered a set of questions created to optimize the patient journey from diagnosis to reconstruction and follow-up.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"165 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131451671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histopathological and Immunohistochemical Appearance of Pleomorphic Dermal Sarcoma","authors":"A. Tinca, R. Niculescu, O. Cotoi","doi":"10.31689/rmm.2021.29.2.159","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.159","url":null,"abstract":"Pleomorphic dermal sarcoma is a rare and aggressive entity that originates in the skin’s dermis. This poorly defined tumor usually appears on the sun exposed skin of the elderly and involves the male gender more often. We describe the case of a 54 year old male patient who presented to the Surgery Department with a tumor located on the scalp. Surgery was performed and the sample was sent to the Pathology Department of Mures Clinical County Hospital for further analysis. Histological analysis showed a tumor with solid architecture and nesting phenomenon, composed of pleomorphic epithelioid cells with high atypia. Typical and atypical mitoses were observed. Immunohistochemistry showed positivity for the following markers: vimentin, CD68 and ki67- proliferation value of 90%. The cells were negative to CK AE1/AE3, S100, SOX10, HMB45, MelanA, CD31, Desmin and SMA. In conclusion, pleomorphic dermal sarcoma represents a challenging diagnosis. The case highlights the histological and immunohistochemistry appearance of the neoplasm. Due to the local aggressivity, difficulty in providing negative resection margins and uncertain prognosis, it’s important to take this entity into consideration each time we encounter a cutaneous pleomorphic tumor.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"60 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126712856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The ’’Do It Yourself’’ Tendon Repair Model: The Use of Silicone for Basic Tendon Surgery Training","authors":"Bogdan Ioncioaia, I. Matei","doi":"10.31689/rmm.2021.29.2.145","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.145","url":null,"abstract":"In order to facilitate the simulation of tendon repair, especially nowadays when a trainee has limited working hours, various non-living tendon repair training models have been described in literature. One of these ingenious models consists of silicone injected into a cast such as a drinking straw, but despite its simplicity, there is no information on how various variables such as cast length and diameter or temperature and air exposure influence the production process. Therefore we have set out to research how various factors influence the manufacturing process of a silicone tendon repair model in order to easily reproduce and use it for personal training.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"334 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124703249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemimegalencephaly and Epileptic Encephalopathy Associated with a Variant of Uncertain Significance of the TRIO Gene","authors":"E. Roza, R. Andrei, R. Teleanu","doi":"10.31689/rmm.2021.29.2.149","DOIUrl":"https://doi.org/10.31689/rmm.2021.29.2.149","url":null,"abstract":"Objectives: Electrical status epilepticus during sleep (ESES) is a type of EEG pattern seen in children with childhood-onset epileptic seizures and cognitive, language and motor regression. ESES has been associated with different etiologies, with or without structural abnormalities of the brain. To replace the term “ESES”, the recent Position Paper of the ILAE Taskforce on Nosology and Definitions introduced the term Epileptic Encephalopathy with Spike-Wave Activity during Sleep (EE-SWAS), which represents an activation of epileptiform activity, typically 1.5-2.5 Hz during NREM sleep, in a previously normal child and leads to cognitive and motor regression. Pathogenic variants in the TRIO gene are associated with autosomal dominant mental retardation type 44 (MRD44), which is characterized by mildly delayed global development resulting in variable intellectual deficits, learning difficulties, and variable dysmorphic features mostly represented by facial asymmetry, microcephaly, abnormalities of the fingers, and dental anomalies. Materials and methods: We present the case of a 13-year-old girl with onset of atonic seizures at the age of 3 who had undergone different types of antiepileptic drug (AED) therapies and was seizure-free 4 years later. She had an acquired impaired cognitive status as well as hemimegalencephaly, multiple hypopigmented patches on her legs and a large patch of hypopigmentation on the left side of her face extending towards the scalp (Becker’s nevus), dental anomalies (gingival hyperplasia, ogival palate), periventricular gliosis and electroencephalographic and (EEG) findings consistent with SWAS. Outcomes: Genetic testing confirmed a heterozygous variant of uncertain significance (VUS) of the TRIO gene, possibly associated with autosomal dominant MRD44. Although our patient presented with some phenotypic similarities to MRD44, her cognitive impairment improved with control of the SWAS pattern and AED adjustments. Conclusion: Association of structural anomalies of white matter, hemimegalencephaly, and encephalopathy with SWAS and a VUS mutation of the TRIO gene might suggest a different genetic neurocutaneous syndrome altogether.","PeriodicalId":380281,"journal":{"name":"Medicina Moderna - Modern Medicine","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125386193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}