Pub Date : 2021-12-22DOI: 10.15388/Amed.2021.28.2.20
Evelina Petruškevičiūtė, D. Bužinskienė
Background. Endometriosis is defined as a chronic, inflammatory, estrogen-dependent gynaecologic disease. It affects approximately 5–10% of reproductive-age women worldwide. Ovarian endometriosis is the most frequent form of this condition. Endometriotic cysts are found in about 17–44% of women diagnosed with endometriosis. It is well known, that ovarian endometriomas can cause infertility and chronic pelvic pain. Enlarging cysts can also cause ovarian torsion. In addition, ovarian endometriosis slightly increases the risk for ovarian cancer. The rupture of endometriotic ovarian cysts is an exceptional complication. According to the literature, the prevalence is less than 3% among women with endometriosis. The rupture of an ovarian endometrioma can cause acute peritonitis, which can lead to sepsis, septic shock and can be lethal. The occurrence of abscesses within an ovarian endometrioma is an extremely rare complication. Generally, the origin of infected endometriotic ovarian cysts is related to the previous invasive procedures involving pelvic organs or the use of intrauterine devices. Also, ovarian abscesses can be caused by the hematogenous or lymphatic spread of bacteria. Although, the literature points out that infection of endometriotic ovarian cysts can develop spontaneously. In these rare cases, reservoir and route of infection remains an enigma. Case report. A 49-year-old female was brought to the emergency room with severe generalized lower abdominal pain (6/10) and three days lasting fever. Abdominal examination revealed diffuse abdominal pain with anterior abdominal wall muscle tension. Painful solid masses were felt on both sides of the uterus during the pelvic examination. Cystic masses were detected in both ovaries during transvaginal sonography. Computer tomography (CT) of the abdomen and pelvis revealed abnormal changes in both ovaries. A small amount of free fluid was found in the pelvic cavity along with thickened pelvic peritoneum. Suspecting acute peritonitis and bilateral tubo-ovarian abscesses, surgical treatment was performed. Lower midline laparotomy with bilateral adnexectomy and abdominal lavage with 4000 ml normal saline were done. The outcome of peritonitis was evaluated using the Mannheim peritonitis index (MPI=17 – low risk of morbidity and mortality). The histopathological examination revealed the diagnosis of bilateral endometriotic cysts complicated with acute inflammation, with associated acute inflammation of both fallopian tubes. Microbiological cultures from the purulent fluid were negative. Conclusions. Although the occurrence of abscesses within an ovarian endometrioma is an extremely rare finding in clinical practice, it has to be considered by gynaecologists because it might result in a surgical emergency that can be life-threatening. Being aware of the risk factors of abscesses within an endometrioma can lead to an early diagnosis of this rare condition and help to avoid serious complications.
{"title":"Acute Diffuse Peritonitis Due to Spontaneous Rupture of an Infected Endometrioma: A Case Report","authors":"Evelina Petruškevičiūtė, D. Bužinskienė","doi":"10.15388/Amed.2021.28.2.20","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.20","url":null,"abstract":"Background. Endometriosis is defined as a chronic, inflammatory, estrogen-dependent gynaecologic disease. It affects approximately 5–10% of reproductive-age women worldwide. Ovarian endometriosis is the most frequent form of this condition. Endometriotic cysts are found in about 17–44% of women diagnosed with endometriosis. It is well known, that ovarian endometriomas can cause infertility and chronic pelvic pain. Enlarging cysts can also cause ovarian torsion. In addition, ovarian endometriosis slightly increases the risk for ovarian cancer. The rupture of endometriotic ovarian cysts is an exceptional complication. According to the literature, the prevalence is less than 3% among women with endometriosis. The rupture of an ovarian endometrioma can cause acute peritonitis, which can lead to sepsis, septic shock and can be lethal. The occurrence of abscesses within an ovarian endometrioma is an extremely rare complication. Generally, the origin of infected endometriotic ovarian cysts is related to the previous invasive procedures involving pelvic organs or the use of intrauterine devices. Also, ovarian abscesses can be caused by the hematogenous or lymphatic spread of bacteria. Although, the literature points out that infection of endometriotic ovarian cysts can develop spontaneously. In these rare cases, reservoir and route of infection remains an enigma. Case report. A 49-year-old female was brought to the emergency room with severe generalized lower abdominal pain (6/10) and three days lasting fever. Abdominal examination revealed diffuse abdominal pain with anterior abdominal wall muscle tension. Painful solid masses were felt on both sides of the uterus during the pelvic examination. Cystic masses were detected in both ovaries during transvaginal sonography. Computer tomography (CT) of the abdomen and pelvis revealed abnormal changes in both ovaries. A small amount of free fluid was found in the pelvic cavity along with thickened pelvic peritoneum. Suspecting acute peritonitis and bilateral tubo-ovarian abscesses, surgical treatment was performed. Lower midline laparotomy with bilateral adnexectomy and abdominal lavage with 4000 ml normal saline were done. The outcome of peritonitis was evaluated using the Mannheim peritonitis index (MPI=17 – low risk of morbidity and mortality). The histopathological examination revealed the diagnosis of bilateral endometriotic cysts complicated with acute inflammation, with associated acute inflammation of both fallopian tubes. Microbiological cultures from the purulent fluid were negative. Conclusions. Although the occurrence of abscesses within an ovarian endometrioma is an extremely rare finding in clinical practice, it has to be considered by gynaecologists because it might result in a surgical emergency that can be life-threatening. Being aware of the risk factors of abscesses within an endometrioma can lead to an early diagnosis of this rare condition and help to avoid serious complications.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"360 - 366"},"PeriodicalIF":0.0,"publicationDate":"2021-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45814991","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}
Pub Date : 2021-12-22DOI: 10.15388/Amed.2021.28.2.18
E. Boreikaitė, V. Bilius, E. Bumbul-Mazurek, Ž. Bumbulienė
This is the first case describing vaginal papillomatosis with a fibroepithelial polyp of the vulva in a prepubertal girl and vaginal papillomatosis in her twin sister. Parents contacted pediatric urologist regarding their eight-year-old daughter (twin A), who had a growth next to the external urethral meatus. The girl was referred to a pediatric surgeon. The exophytic 3 cm long structure with necrosis on top was found. After obtaining informed consent from girl parents, pediatric surgeon removed the exophytic structure and perform cystoscopy and vaginoscopy for possible changes in the bladder and vagina. Cystoscopy findings were normal. On vaginoscopy, numerous macroscopic papillomatous structures were identified on the cervix and vaginal walls. Vaginal biopsies were performed on the areas affected by papillomatosis. Histopathologic examination showed a fibroepithelial polyp with a central fibrovascular core covered by squamous epithelium and vaginal squamous papillomatosis. The decision was made to perform vaginoscopy on her twin sister (twin B), too. On vaginoscopy, solitary small vaginal papillomas were also found. In this case manifestation of vaginal papillomatosis in twins might have been influenced by inheritance and the same bacterial and viral environment.
{"title":"Squamous Vaginal Papillomatosis in Prepubertal Female Twins: A Case Report","authors":"E. Boreikaitė, V. Bilius, E. Bumbul-Mazurek, Ž. Bumbulienė","doi":"10.15388/Amed.2021.28.2.18","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.18","url":null,"abstract":"This is the first case describing vaginal papillomatosis with a fibroepithelial polyp of the vulva in a prepubertal girl and vaginal papillomatosis in her twin sister. Parents contacted pediatric urologist regarding their eight-year-old daughter (twin A), who had a growth next to the external urethral meatus. The girl was referred to a pediatric surgeon. The exophytic 3 cm long structure with necrosis on top was found. After obtaining informed consent from girl parents, pediatric surgeon removed the exophytic structure and perform cystoscopy and vaginoscopy for possible changes in the bladder and vagina. Cystoscopy findings were normal. On vaginoscopy, numerous macroscopic papillomatous structures were identified on the cervix and vaginal walls. Vaginal biopsies were performed on the areas affected by papillomatosis. Histopathologic examination showed a fibroepithelial polyp with a central fibrovascular core covered by squamous epithelium and vaginal squamous papillomatosis. The decision was made to perform vaginoscopy on her twin sister (twin B), too. On vaginoscopy, solitary small vaginal papillomas were also found. In this case manifestation of vaginal papillomatosis in twins might have been influenced by inheritance and the same bacterial and viral environment.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"374 - 378"},"PeriodicalIF":0.0,"publicationDate":"2021-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47396028","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}
Pub Date : 2021-12-17DOI: 10.15388/Amed.2021.28.2.17
C. Damaskos, N. Garmpis, A. Garmpi, V. Georgakopoulou, Alexandros Patsouras, G. Sypsa, A. Syllaios, E. Antoniou
Pancreatic cancer is as an aggressive malignancy with low survival rates. We present the first case of an operation of acute mesenteric ischemia performed in a patient with end-stage pancreatic adenocarcinoma. Through this case, we also discuss raising concerns regarding the management of severe complications such as acute mesenteric ischemia in patients with progressed pancreatic carcinoma. How ethical is to leave patients untreated? The decisions for management of patients with advanced disease are strongly based on the expected quality of life, ethical principles, different religions and spiritualities, and the burden of healthcare cost.
{"title":"Ethical Dilemma: Is it Worthwhile Operating an End-Stage Pancreatic Cancer Patient with Acute Mesenteric Artery Ischemia?","authors":"C. Damaskos, N. Garmpis, A. Garmpi, V. Georgakopoulou, Alexandros Patsouras, G. Sypsa, A. Syllaios, E. Antoniou","doi":"10.15388/Amed.2021.28.2.17","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.17","url":null,"abstract":"Pancreatic cancer is as an aggressive malignancy with low survival rates. We present the first case of an operation of acute mesenteric ischemia performed in a patient with end-stage pancreatic adenocarcinoma. Through this case, we also discuss raising concerns regarding the management of severe complications such as acute mesenteric ischemia in patients with progressed pancreatic carcinoma. How ethical is to leave patients untreated? The decisions for management of patients with advanced disease are strongly based on the expected quality of life, ethical principles, different religions and spiritualities, and the burden of healthcare cost.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"325 - 329"},"PeriodicalIF":0.0,"publicationDate":"2021-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66921708","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}
Pub Date : 2021-12-16DOI: 10.15388/Amed.2021.28.2.16
M. Svetikiene, D. Trybė, M. Strioga, J. Vėželienė, V. Isajevas, R. Malickaitė, L. Jurgauskienė, D. Ringaitiene, M. Serpytis, J. Šipylaitė
Background. Cardiac surgery provokes an intense inflammatory response that can cause an immunosuppressive state and adverse postoperative outcomes. We recently showed that postoperative immunonutrition with glutamine in “fragile” low-risk cardiac surgery patients was associated with a significantly increased level of CD3+ and CD4+ T cells. In order to clarify the biological relevance and clinical importance of these findings, we investigated whether an increase in the CD4+ T cell level was caused by changes in the systemic inflammatory response (caused by surgery or infection) and if it was associated with their activation status. Methods. A randomized control study of low operative risk but “fragile” cardiac surgery patients was performed. Patients were randomized into immunonutrition (IN) and control groups (C). The IN group received normal daily meals plus special immune nutrients for 5 days postoperatively, while the C group received only normal daily meals. Laboratory parameters were investigated before surgery and on the sixth postoperative day and the groups were compared accordingly. The expression of the CD69+ marker was investigated to determine T cell activation status. Serum concentrations of cytokines (interleukin-10 (IL-10), tumor necrosis factor α (TNF-α) and interleukin-6 (IL-6)) and C-reactive protein (CRP) were determined to assess the systemic inflammatory response, while procalcitonin (PCT) levels were evaluated to confirm or deny possible bacterial infection. Results. Fifty-five patients were enrolled in the study. Twenty-seven (49.1%) were randomized in the IN group. Results show that on the sixth postoperative day, the CD4+CD69+ and CD8+CD69+ counts did not differ between the IN and C groups, accordingly 0.25 [0.16–0.50] vs 0.22 [0.13-0.41], p=0.578 and 0.13 [0.06–0.3] vs 0.09 [0.05–0.14], p=0.178. Also, statistically significant differences were not observed in the cytokine levels (IN and C groups: TNF-α 8.13 [7.32–10.31] vs 8.78 [7.65–11.2], p=0.300; IL-6 14.65 [9.28–18.95] vs 12.25 [8.55–22.50], p=0.786; IL-10 5.0 [5.0–5.0] vs 5.0 [5.0–5.0], p=0.343 respectively), which imply that an elevated T cell count is not associated with the systemic inflammatory response. Also, PCT (IN and C groups: 0.03 [0.01–0.09] vs 0.05 [0.03–0.08], p=0.352) and CRP (IN and C groups 62.7 [34.2–106.0] vs 63.7 [32.9–91.0], p=0.840) levels did not differ between the two groups. Moreover, low levels of PCT indicated that the increase in T cell count was not determined by bacterial infection. Conclusions. Our findings showed that CD4+ T cell levels were associated with neither the systemic inflammatory response nor bacterial infection. Secondly, increases in T cells are not accompanied by their activation status. These results suggest a hypothesis that a higher postoperative T cell concentration may be associated with postoperative immunonutrition in low-risk cardiac surgery patients with intact cellular vitality, i.e. “fragile”. However, immunonu
{"title":"Impact of Immunonutrition on T Cell Activation: A Randomized Control Study in Cardiac Surgery Patients","authors":"M. Svetikiene, D. Trybė, M. Strioga, J. Vėželienė, V. Isajevas, R. Malickaitė, L. Jurgauskienė, D. Ringaitiene, M. Serpytis, J. Šipylaitė","doi":"10.15388/Amed.2021.28.2.16","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.16","url":null,"abstract":"Background. Cardiac surgery provokes an intense inflammatory response that can cause an immunosuppressive state and adverse postoperative outcomes. We recently showed that postoperative immunonutrition with glutamine in “fragile” low-risk cardiac surgery patients was associated with a significantly increased level of CD3+ and CD4+ T cells. In order to clarify the biological relevance and clinical importance of these findings, we investigated whether an increase in the CD4+ T cell level was caused by changes in the systemic inflammatory response (caused by surgery or infection) and if it was associated with their activation status. Methods. A randomized control study of low operative risk but “fragile” cardiac surgery patients was performed. Patients were randomized into immunonutrition (IN) and control groups (C). The IN group received normal daily meals plus special immune nutrients for 5 days postoperatively, while the C group received only normal daily meals. Laboratory parameters were investigated before surgery and on the sixth postoperative day and the groups were compared accordingly. The expression of the CD69+ marker was investigated to determine T cell activation status. Serum concentrations of cytokines (interleukin-10 (IL-10), tumor necrosis factor α (TNF-α) and interleukin-6 (IL-6)) and C-reactive protein (CRP) were determined to assess the systemic inflammatory response, while procalcitonin (PCT) levels were evaluated to confirm or deny possible bacterial infection. Results. Fifty-five patients were enrolled in the study. Twenty-seven (49.1%) were randomized in the IN group. Results show that on the sixth postoperative day, the CD4+CD69+ and CD8+CD69+ counts did not differ between the IN and C groups, accordingly 0.25 [0.16–0.50] vs 0.22 [0.13-0.41], p=0.578 and 0.13 [0.06–0.3] vs 0.09 [0.05–0.14], p=0.178. Also, statistically significant differences were not observed in the cytokine levels (IN and C groups: TNF-α 8.13 [7.32–10.31] vs 8.78 [7.65–11.2], p=0.300; IL-6 14.65 [9.28–18.95] vs 12.25 [8.55–22.50], p=0.786; IL-10 5.0 [5.0–5.0] vs 5.0 [5.0–5.0], p=0.343 respectively), which imply that an elevated T cell count is not associated with the systemic inflammatory response. Also, PCT (IN and C groups: 0.03 [0.01–0.09] vs 0.05 [0.03–0.08], p=0.352) and CRP (IN and C groups 62.7 [34.2–106.0] vs 63.7 [32.9–91.0], p=0.840) levels did not differ between the two groups. Moreover, low levels of PCT indicated that the increase in T cell count was not determined by bacterial infection. Conclusions. Our findings showed that CD4+ T cell levels were associated with neither the systemic inflammatory response nor bacterial infection. Secondly, increases in T cells are not accompanied by their activation status. These results suggest a hypothesis that a higher postoperative T cell concentration may be associated with postoperative immunonutrition in low-risk cardiac surgery patients with intact cellular vitality, i.e. “fragile”. However, immunonu","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"240 - 252"},"PeriodicalIF":0.0,"publicationDate":"2021-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42649513","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}
Pub Date : 2021-08-31DOI: 10.15388/Amed.2021.28.2.13
B. Gricienė, Monika Šiukšterytė
Background. Patients, especially children, are exposed to substantially high doses of ionising radiation during computed tomography (CT) procedures. Children are several times more susceptible to ionising radiation than adults. Diagnostic reference levels (DRLs) are an important tool for monitoring and optimising patient radiation exposure from radiological procedures. The aim of this study is to estimate the ionising radiation exposure doses and set local DRLs for head CT examinations according to age and to compare local DRLs with national and European DRLs and with literature data in other countries. Materials and methods. Scan parameters of single-phase head CT examinations were collected. Patients were grouped by age in the following intervals: <1, 1−5, 5−10, 10−15 and 15−18 years. Local age-based DRLs set as the 3rd quartile of the median dose-length product (DLP) were calculated. Literature analysis was performed on PubMed search engine on inclusion criteria: publication date 2015–2020, used keywords paediatric computed tomography, paediatric CT, diagnostic reference levels (DRLs). The 23 articles discussing paediatric DRLs were further analysed. Results. Data was collected from 194 paediatric head CT examinations performed in 2019. The median DLP values for head CT were 144.3, 233.7, 246.4, 288.9, 315.5 for <1, 1−5, 5−10, 10−15 and 15−18 years old groups. Estimated local DRLs for head CT examinations are 170, 300, 310, 320, 360 mGy*cm for <1, 1−5, 5−10, 10−15 and 15−18 years age groups respectively and 130, 210, 275, 320 mGy*cm for 0−3 months, 3 months−1 year, 1−6 years and ≥ 6 years age groups respectively. Conclusions. Results of this study showed that settled new local DRLs of head CT examinations were 2–4 times lower than national DRLs and about 2 times lower than European DRLs. Moreover, the study indicated that paediatric head CT doses are significantly lower in comparison with those indicated in the majority of published data from other hospitals over the last 6 years. Patient dose assessment and local DRLs establishment plays important role in future exposure optimisation.
{"title":"Local Diagnostic Reference Levels for Paediatric Head CT Procedures","authors":"B. Gricienė, Monika Šiukšterytė","doi":"10.15388/Amed.2021.28.2.13","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.13","url":null,"abstract":"Background. Patients, especially children, are exposed to substantially high doses of ionising radiation during computed tomography (CT) procedures. Children are several times more susceptible to ionising radiation than adults. Diagnostic reference levels (DRLs) are an important tool for monitoring and optimising patient radiation exposure from radiological procedures. The aim of this study is to estimate the ionising radiation exposure doses and set local DRLs for head CT examinations according to age and to compare local DRLs with national and European DRLs and with literature data in other countries. Materials and methods. Scan parameters of single-phase head CT examinations were collected. Patients were grouped by age in the following intervals: <1, 1−5, 5−10, 10−15 and 15−18 years. Local age-based DRLs set as the 3rd quartile of the median dose-length product (DLP) were calculated. Literature analysis was performed on PubMed search engine on inclusion criteria: publication date 2015–2020, used keywords paediatric computed tomography, paediatric CT, diagnostic reference levels (DRLs). The 23 articles discussing paediatric DRLs were further analysed. Results. Data was collected from 194 paediatric head CT examinations performed in 2019. The median DLP values for head CT were 144.3, 233.7, 246.4, 288.9, 315.5 for <1, 1−5, 5−10, 10−15 and 15−18 years old groups. Estimated local DRLs for head CT examinations are 170, 300, 310, 320, 360 mGy*cm for <1, 1−5, 5−10, 10−15 and 15−18 years age groups respectively and 130, 210, 275, 320 mGy*cm for 0−3 months, 3 months−1 year, 1−6 years and ≥ 6 years age groups respectively. Conclusions. Results of this study showed that settled new local DRLs of head CT examinations were 2–4 times lower than national DRLs and about 2 times lower than European DRLs. Moreover, the study indicated that paediatric head CT doses are significantly lower in comparison with those indicated in the majority of published data from other hospitals over the last 6 years. Patient dose assessment and local DRLs establishment plays important role in future exposure optimisation.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"253 - 261"},"PeriodicalIF":0.0,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47598963","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}
Pub Date : 2021-08-20DOI: 10.15388/Amed.2021.28.2.11
B. Baghianimoghadam, Aidin Arabzadeh, Yousef Fallah
Introduction: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran. Materials and methods: The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral examination revealed serrated incisal margins, dental transposition, a diastema, conical teeth and, enamel hypoplasia. In the radiographic examination of upper extremity, postaxial polydactyly and polymetacarpia, enlarged distal radius, and fusion of capitate and hamate were seen. We searched online databases (Pubmed, Scopus, Google Scholar) and found 14 Iranian papers with 21 reported patients (there was no time limit). We reviewed available clinical and genetic data and the geographic origins of patients. Results: 14 articles reporting 22 EVC patients (including our patient) from Iran have been published in Persian and English (7 in Persian and 7 in English). All patients presented with characteristic EVC symptoms but were diagnosed at a relatively late age, 18 patients were born to consanguineous marriages Conclusions: It seems that based on these studies, it is possible to identify some families with this genetic mutation. We can warn such families of the dangers of consanguineous marriage through genetic counseling before marriage. In addition, by identifying families with such problems, we can detect such anomalies in the baby earlier with more careful prenatal care.
{"title":"Ellis–van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East","authors":"B. Baghianimoghadam, Aidin Arabzadeh, Yousef Fallah","doi":"10.15388/Amed.2021.28.2.11","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.11","url":null,"abstract":"Introduction: Chondroectodermal dysplasia (Ellis–van Creveld syndrome (EVC)) (OMIM: #225500) is a rare skeletal dysplasia with unknown exact prevalence. EVC patients may have abnormal skeletal and extra skeletal symptoms. We report a case of EVC patient and review previous cases reported in Iran. Materials and methods: The patient was a 30 years old woman referred to our hand clinic for an extra finger in both hands. She was born to a consanguineous marriage. The patient had a history of bilateral valgus deformity of the knees, for which she underwent proximal tibial and distal femoral osteotomy. Upon examination, the patient had bilateral polydactyly and brachymetacarpia with hypotrophic fingernails. She was about 120 cm tall and had acromesomelic type dwarfism. Oral examination revealed serrated incisal margins, dental transposition, a diastema, conical teeth and, enamel hypoplasia. In the radiographic examination of upper extremity, postaxial polydactyly and polymetacarpia, enlarged distal radius, and fusion of capitate and hamate were seen. We searched online databases (Pubmed, Scopus, Google Scholar) and found 14 Iranian papers with 21 reported patients (there was no time limit). We reviewed available clinical and genetic data and the geographic origins of patients. Results: 14 articles reporting 22 EVC patients (including our patient) from Iran have been published in Persian and English (7 in Persian and 7 in English). All patients presented with characteristic EVC symptoms but were diagnosed at a relatively late age, 18 patients were born to consanguineous marriages Conclusions: It seems that based on these studies, it is possible to identify some families with this genetic mutation. We can warn such families of the dangers of consanguineous marriage through genetic counseling before marriage. In addition, by identifying families with such problems, we can detect such anomalies in the baby earlier with more careful prenatal care.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"317 - 324"},"PeriodicalIF":0.0,"publicationDate":"2021-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48259413","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}
Pub Date : 2021-08-18DOI: 10.15388/Amed.2021.28.2.10
A. Gunasekaran, A. Malviya, Tony Ete, A. Mishra, B. Barman, M. Jamil, Donboklang Lynser
Hepatocellular carcinoma (HCC) is one of the leading causes of cancer and cancer related deaths worldwide. Metastasis of HCC into the cardiac cavity is mostly caused by direct tumor thrombus invasion through the major hepatic veins and of vena cava inferior with continuous extension into the right cardiac cavity. Right heart metastasis without invasion of inferior vena cava (IVC), which may be caused by haematogenous spread of cancer cells, is rarely reported. We report a case of HCC with IVC and right atrium (RA) thrombus in a patient who presented to us with decompensated cardiac failure. Strikingly, the patient was young and with negative serum HBsAg, and anti-HCV results. Our case highlights a rare presentation of metastatic intracardiac tumor thrombus involving the RA in advanced HCC without any symptoms of cardiac failure, and henceforth, the role of screening echocardiography for all patients with advanced HCC especially with vena caval involvement to rule out intracardiac thrombus.
{"title":"Hepatocellular Carcinoma with Inferior Vena Cava and Right Atrium Tumor Thrombus","authors":"A. Gunasekaran, A. Malviya, Tony Ete, A. Mishra, B. Barman, M. Jamil, Donboklang Lynser","doi":"10.15388/Amed.2021.28.2.10","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.10","url":null,"abstract":"Hepatocellular carcinoma (HCC) is one of the leading causes of cancer and cancer related deaths worldwide. Metastasis of HCC into the cardiac cavity is mostly caused by direct tumor thrombus invasion through the major hepatic veins and of vena cava inferior with continuous extension into the right cardiac cavity. Right heart metastasis without invasion of inferior vena cava (IVC), which may be caused by haematogenous spread of cancer cells, is rarely reported. We report a case of HCC with IVC and right atrium (RA) thrombus in a patient who presented to us with decompensated cardiac failure. Strikingly, the patient was young and with negative serum HBsAg, and anti-HCV results. Our case highlights a rare presentation of metastatic intracardiac tumor thrombus involving the RA in advanced HCC without any symptoms of cardiac failure, and henceforth, the role of screening echocardiography for all patients with advanced HCC especially with vena caval involvement to rule out intracardiac thrombus.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"344 - 348"},"PeriodicalIF":0.0,"publicationDate":"2021-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43661335","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}
Pub Date : 2021-08-17DOI: 10.15388/Amed.2021.28.2.8
Gunda Petraitytė, E. Preiksaitiene, V. Mikštienė
Studies which seek fundamental, thorough knowledge of biological processes, and continuous advancement in natural sciences and biotechnology enable the establishment of molecular strategies and tools to treat disorders caused by genetic mutations. Over the years biological therapy evolved from using stem cells and viral vectors to RNA therapy and testing different genome editing tools as promising gene therapy agents. These genome editing technologies (Zinc finger nucleases, TAL effector nucleases), specifically CRISPR-Cas system, revolutionized the field of genetic engineering and is widely applied to create cell and animal models for various hereditary, infectious human diseases and cancer, to analyze and understand the molecular and cellular base of pathogenesis, to find potential drug/treatment targets, to eliminate pathogenic DNA changes in various medical conditions and to create future “precise medication”. Although different concerning factors, such as precise system delivery to the target cells, efficacy and accuracy of editing process, different approaches of making the DNA changes as well as worrying bioethical issues remain, the importance of genome editing technologies in medicine is undeniable. The future of innovative genome editing approach and strategies to treat diseases is complicated but interesting and exciting at once for all related parties – researchers, clinicians, and patients.
{"title":"Genome Editing in Medicine: Tools and Challenges","authors":"Gunda Petraitytė, E. Preiksaitiene, V. Mikštienė","doi":"10.15388/Amed.2021.28.2.8","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.8","url":null,"abstract":"Studies which seek fundamental, thorough knowledge of biological processes, and continuous advancement in natural sciences and biotechnology enable the establishment of molecular strategies and tools to treat disorders caused by genetic mutations. Over the years biological therapy evolved from using stem cells and viral vectors to RNA therapy and testing different genome editing tools as promising gene therapy agents. These genome editing technologies (Zinc finger nucleases, TAL effector nucleases), specifically CRISPR-Cas system, revolutionized the field of genetic engineering and is widely applied to create cell and animal models for various hereditary, infectious human diseases and cancer, to analyze and understand the molecular and cellular base of pathogenesis, to find potential drug/treatment targets, to eliminate pathogenic DNA changes in various medical conditions and to create future “precise medication”. Although different concerning factors, such as precise system delivery to the target cells, efficacy and accuracy of editing process, different approaches of making the DNA changes as well as worrying bioethical issues remain, the importance of genome editing technologies in medicine is undeniable. The future of innovative genome editing approach and strategies to treat diseases is complicated but interesting and exciting at once for all related parties – researchers, clinicians, and patients.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"205 - 219"},"PeriodicalIF":0.0,"publicationDate":"2021-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48819309","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}
Pub Date : 2021-08-17DOI: 10.15388/amed.2021.28.2.9
Vidas Petrauskas, Š. Narbutas, Neringa Čiakienė, Guoda Gudelytė, A. Dulskas
Letter to the editor
给编辑的信
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Pub Date : 2021-08-11DOI: 10.15388/Amed.2021.28.2.14
Paulina Tekoriutė, Monika Matuliauskaitė, L. Jonaitis
5-Aminosalicylic acid (5-ASA) preparations are widely used in the treatment of inflammatory bowel diseases. The most commonly used medicine is mesalamine. Overall, it is a very safe drug with few side effects. A rare side effect of this medicine is interstitial nephritis (IN). With discontinuation of the drug the renal function usually restores. However, if damage has not been detected for a long time, irreversible changes may occur. In this article, we present a clinical case of mesalamine induced IN. A 56-year-old man who has had ulcerative colitis for 20 years, was admitted due to mesalamine induced acute renal failure. A year before, the patient had been diagnosed with mesalamine-induced interstitial nephritis and the treatment with mesalamine was discontinued. The symptoms of ulcerative colitis worsened, and the patient independently decided to start taking mesalamine, which resulted in worsening of his health condition and impaired renal function. Mesalamine has been discontinued, additional treatment for acute kidney failure has been administered including hemodialysis. Renal function recovered and the patient was released for further treatment of ulcerative colitis and monitoring of renal function.
{"title":"Drug-Induced Intersticial Nephritis. Clinical Case","authors":"Paulina Tekoriutė, Monika Matuliauskaitė, L. Jonaitis","doi":"10.15388/Amed.2021.28.2.14","DOIUrl":"https://doi.org/10.15388/Amed.2021.28.2.14","url":null,"abstract":"5-Aminosalicylic acid (5-ASA) preparations are widely used in the treatment of inflammatory bowel diseases. The most commonly used medicine is mesalamine. Overall, it is a very safe drug with few side effects. A rare side effect of this medicine is interstitial nephritis (IN). With discontinuation of the drug the renal function usually restores. However, if damage has not been detected for a long time, irreversible changes may occur. In this article, we present a clinical case of mesalamine induced IN. A 56-year-old man who has had ulcerative colitis for 20 years, was admitted due to mesalamine induced acute renal failure. A year before, the patient had been diagnosed with mesalamine-induced interstitial nephritis and the treatment with mesalamine was discontinued. The symptoms of ulcerative colitis worsened, and the patient independently decided to start taking mesalamine, which resulted in worsening of his health condition and impaired renal function. Mesalamine has been discontinued, additional treatment for acute kidney failure has been administered including hemodialysis. Renal function recovered and the patient was released for further treatment of ulcerative colitis and monitoring of renal function.","PeriodicalId":34365,"journal":{"name":"Acta Medica Lituanica","volume":"28 1","pages":"355 - 359"},"PeriodicalIF":0.0,"publicationDate":"2021-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43712608","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}
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