Pub Date : 2013-08-01DOI: 10.13172/2052-0077-2-7-729
A. Konstantinidou, A. Souka, C. Sofocleous, H. Paraskevakou
Introduction Osteogenesis imperfecta type II is one of the more common lethal skeletal dysplasias with prenatal onset. The prenatal ultrasound scan may suggest the presence of severe short limb skeletal dysplasias and can accurately predict lethality, but the final diagnosis, typing and subtyping of the specific genetic skeletal disorder are mainly based on the postmortem radiography. Histopathology of the bone and car- tilage can be contributory in vari- ous skeletal dysplasias, and, in the case of osteogenesis imperfecta can be diagnostic. We describe a case of osteogenesis imperfecta type II diagnosed in a 14-week gestation foetus on the basis of the typical histopathological findings on curet- tage material. This report highlights the utility of histological diagnosis in certain skeletal dysplasias, even in the absence of reliable postmor- tem radiographic control, as is the case with curettage material in early termination of pregnancy. In addi- tion, we document the presence of limb and rib fractures as early as the 14th week of gestation, and confirm that osteogenesis imperfecta type II can present in the first-trimester ultrasound scan with increased nuchal translucency, ventriculo- megaly and generalised oedema,
{"title":"Osteogenesis imperfecta type II: postmortem histological diagnosis on curettage material","authors":"A. Konstantinidou, A. Souka, C. Sofocleous, H. Paraskevakou","doi":"10.13172/2052-0077-2-7-729","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-729","url":null,"abstract":"Introduction Osteogenesis imperfecta type II is one of the more common lethal skeletal dysplasias with prenatal onset. The prenatal ultrasound scan may suggest the presence of severe short limb skeletal dysplasias and can accurately predict lethality, but the final diagnosis, typing and subtyping of the specific genetic skeletal disorder are mainly based on the postmortem radiography. Histopathology of the bone and car- tilage can be contributory in vari- ous skeletal dysplasias, and, in the case of osteogenesis imperfecta can be diagnostic. We describe a case of osteogenesis imperfecta type II diagnosed in a 14-week gestation foetus on the basis of the typical histopathological findings on curet- tage material. This report highlights the utility of histological diagnosis in certain skeletal dysplasias, even in the absence of reliable postmor- tem radiographic control, as is the case with curettage material in early termination of pregnancy. In addi- tion, we document the presence of limb and rib fractures as early as the 14th week of gestation, and confirm that osteogenesis imperfecta type II can present in the first-trimester ultrasound scan with increased nuchal translucency, ventriculo- megaly and generalised oedema,","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85027037","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 : 2013-08-01DOI: 10.13172/2052-0077-2-7-732
A. Pulei, Kw Ongeti, E. Rogena, C. Jowi
ventricular septal defect, patent duc tus arteriosus, bicuspid aortic valve, left ventricular outflow tract obstruc tion, or aortopulmonary window2. The IAA anomaly was first described by Steidele3 in 1778. Celoria and Patton4 later classified IAA into three types according to the site of dis continuity of the aortic arch. Type A was the IAA where the site of discon tinuity was distal to the left sublcav ian artery, type B, between the left carotid and left subclavian arteries and between the innominate and left carotid arteries, type C. The most common type is B (53%), followed by A (43%) and C (4%). We describe a type A IAA that coexists with bila teral hydroureter and a foramen secundum.
{"title":"A rare type of interruption of the aortic arch: case report","authors":"A. Pulei, Kw Ongeti, E. Rogena, C. Jowi","doi":"10.13172/2052-0077-2-7-732","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-732","url":null,"abstract":"ventricular septal defect, patent duc tus arteriosus, bicuspid aortic valve, left ventricular outflow tract obstruc tion, or aortopulmonary window2. The IAA anomaly was first described by Steidele3 in 1778. Celoria and Patton4 later classified IAA into three types according to the site of dis continuity of the aortic arch. Type A was the IAA where the site of discon tinuity was distal to the left sublcav ian artery, type B, between the left carotid and left subclavian arteries and between the innominate and left carotid arteries, type C. The most common type is B (53%), followed by A (43%) and C (4%). We describe a type A IAA that coexists with bila teral hydroureter and a foramen secundum.","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"68 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86041446","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 : 2013-08-01DOI: 10.13172/2052-0077-2-7-724
V. Kalles, I. Papapanagiotou, T. Mariolis-Sapsakos, M. Varras
Ovarian cancer represents the fourth most common female cancer, with the presence of brain metastases being rare (<2%) among these patients. This percentage, although, has risen in the last decades, possibly due to the improved anticancer therapies that result in better survival of these patients. A literature review that was conducted revealed several cases of ovarian cancer patients with brain metastasis being positive for BRCA1/2 gene mutations. In ovarian cancer, BRCA1/2 mutations are associated with different survivals and diseases—free survival, while the development of brain metastases has been thought to represent a different biological phenotype of the disease. Therefore, in this report, we discuss the basis of the hypothesis that ovarian cancer patients with brain metastases should be screened for BRCA1/2 gene mutations.
{"title":"Presence of brain metastases in patients with ovarian cancer: a place for BRCA1/2 gene testing?","authors":"V. Kalles, I. Papapanagiotou, T. Mariolis-Sapsakos, M. Varras","doi":"10.13172/2052-0077-2-7-724","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-724","url":null,"abstract":"Ovarian cancer represents the fourth most common female cancer, with the presence of brain metastases being rare (<2%) among these patients. This percentage, although, has risen in the last decades, possibly due to the improved anticancer therapies that result in better survival of these patients. A literature review that was conducted revealed several cases of ovarian cancer patients with brain metastasis being positive for BRCA1/2 gene mutations. In ovarian cancer, BRCA1/2 mutations are associated with different survivals and diseases—free survival, while the development of brain metastases has been thought to represent a different biological phenotype of the disease. Therefore, in this report, we discuss the basis of the hypothesis that ovarian cancer patients with brain metastases should be screened for BRCA1/2 gene mutations.","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"57 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74017614","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 : 2013-08-01DOI: 10.13172/2052-0077-2-7-730
R. Thangarajan, P. Shetty, B. Ray, A. Saxena
Editorial The medical field is being brushed with various researches which provide us novelty in the specific field. Obser- vational studies or incidental findings are accepted as case reports for publi- cation. These findings are encountered during clinical and surgical practice, diagnostic procedures and dissection. A well-designed case report can easily cross all the barricades on the way of publication procedures. Hence, it is important to conceptualise and design a case report. This article highlights the basics requirements to construct the case report. Conclusion Case reports are indispensable resources in the medical literature. Case report serves not only to pub- lish rare or unusual observation, but also, essential, to report frequency of rare occurrence.
{"title":"Foundation pillars: Building up a case report","authors":"R. Thangarajan, P. Shetty, B. Ray, A. Saxena","doi":"10.13172/2052-0077-2-7-730","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-730","url":null,"abstract":"Editorial The medical field is being brushed with various researches which provide us novelty in the specific field. Obser- vational studies or incidental findings are accepted as case reports for publi- cation. These findings are encountered during clinical and surgical practice, diagnostic procedures and dissection. A well-designed case report can easily cross all the barricades on the way of publication procedures. Hence, it is important to conceptualise and design a case report. This article highlights the basics requirements to construct the case report. Conclusion Case reports are indispensable resources in the medical literature. Case report serves not only to pub- lish rare or unusual observation, but also, essential, to report frequency of rare occurrence.","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"213 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79563189","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 : 2013-08-01DOI: 10.13172/2052-0077-2-8-735
P. Choudhury, P. Sarda, P. Baruah, S. Singh
{"title":"Congenital Chiari malformations: Magnetic resonance imaging study","authors":"P. Choudhury, P. Sarda, P. Baruah, S. Singh","doi":"10.13172/2052-0077-2-8-735","DOIUrl":"https://doi.org/10.13172/2052-0077-2-8-735","url":null,"abstract":"","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"208 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72813387","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 : 2013-08-01DOI: 10.13172/2052-0077-2-7-723
I. Wani, I. Muzafar, I. Gul
Abstract Introduction Rectal prolapse is a full-thickness protrusion of the rectum through the anal sphincter commonly seen in older people. In young people, rectal prolapse is uncommon. Any condition leading to increased intrabdominal pressure is contributory. This rectal prolapse is always an inconvenience for patient. This paper discusses a case of giant rectal prolapse. Case report A case of large rectal prolapse in a 25-year-old male is reported. The patient had a recurrent prolapse and was managed conservatively each time. He had a known case of chronic constipation. Conclusion Large rectal prolapse in young people is rare. Chronic constipation is commonly seen in rectal prolapse. Surgery is the treatment.
{"title":"Giant rectal prolapse: a case report","authors":"I. Wani, I. Muzafar, I. Gul","doi":"10.13172/2052-0077-2-7-723","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-723","url":null,"abstract":"Abstract Introduction Rectal prolapse is a full-thickness protrusion of the rectum through the anal sphincter commonly seen in older people. In young people, rectal prolapse is uncommon. Any condition leading to increased intrabdominal pressure is contributory. This rectal prolapse is always an inconvenience for patient. This paper discusses a case of giant rectal prolapse. Case report A case of large rectal prolapse in a 25-year-old male is reported. The patient had a recurrent prolapse and was managed conservatively each time. He had a known case of chronic constipation. Conclusion Large rectal prolapse in young people is rare. Chronic constipation is commonly seen in rectal prolapse. Surgery is the treatment.","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"91 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78078696","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 : 2013-08-01DOI: 10.13172/2052-0077-2-6-720
C. Barkolias, Nikolaos F Orfanos, V. Kalles, G. Georgiou, I. Papapanagiotou, I. Flessas, G. Vrakopoulou, I. Kaklamanos, N. Goutas, T. Mariolis-Sapsakos
Abstract Introduction Ectopic pancreas is defined as a pancreatic tissue in an abnormal location with no ductal, anatomical, neuronal or vascular communication with the main body of the pancreas. The incidence of heterotopic pancreas in autopsy studies is approximately 0.6%– 15%, while the clinical incidence is 1 in 500 laparotomies. Ectopic pancreatic tissue can be present anywhere along the gastrointestinal tract. This paper discusses a case of ectopic pancreatic tissue located in the subserosa of the jejunum. Case report We present the case of a 53-year-old woman where a sigmoid resection for chronic, symptomatic diverticular disease was performed and incidentally, a 2 × 3 cm tumour was found in the jejunum. The histological study reported a subserosal heterotopic pancreatic tumour. The patient postoperatively remained asymptomatic and was dismissed on the 6th postoperative day. Conclusion In 75% of the cases, the ectopic pancreatic tissue is located in the submucosa. However, around 13% of these tumours will be found to be in the subserosa. This case is of great interest because of the subserosal location of the tumour. Introduction Ectopic pancreas is defined as a pancreatic tissue in an abnormal location with no ductal, anatomical, neuronal, vascular communication with the main body of the pancreas1,2. The incidence of heterotopic pancreas in autopsy studies is approximately 0.55%–13.7% and as low as 0.2% in laparotomies3–5. The ectopic pancreatic tissue can be present anywhere along the gastrointestinal tract1,3–7. Most frequently, it is located in the stomach, the duodenum, the proximal jejunum or the Meckel’s diverticulum8,9. Rarely, it is seen in the ileum, the gallbladder, the bile ducts, the splenic hilum, the umbilicus and the liver10–12. The present report describes a rare case where the ectopic pancreatic tissue was located in the jejunum as a subserosal tumour.
{"title":"Ectopic pancreatic tissue located in the subserosa of the jejunum: A case report","authors":"C. Barkolias, Nikolaos F Orfanos, V. Kalles, G. Georgiou, I. Papapanagiotou, I. Flessas, G. Vrakopoulou, I. Kaklamanos, N. Goutas, T. Mariolis-Sapsakos","doi":"10.13172/2052-0077-2-6-720","DOIUrl":"https://doi.org/10.13172/2052-0077-2-6-720","url":null,"abstract":"Abstract Introduction Ectopic pancreas is defined as a pancreatic tissue in an abnormal location with no ductal, anatomical, neuronal or vascular communication with the main body of the pancreas. The incidence of heterotopic pancreas in autopsy studies is approximately 0.6%– 15%, while the clinical incidence is 1 in 500 laparotomies. Ectopic pancreatic tissue can be present anywhere along the gastrointestinal tract. This paper discusses a case of ectopic pancreatic tissue located in the subserosa of the jejunum. Case report We present the case of a 53-year-old woman where a sigmoid resection for chronic, symptomatic diverticular disease was performed and incidentally, a 2 × 3 cm tumour was found in the jejunum. The histological study reported a subserosal heterotopic pancreatic tumour. The patient postoperatively remained asymptomatic and was dismissed on the 6th postoperative day. Conclusion In 75% of the cases, the ectopic pancreatic tissue is located in the submucosa. However, around 13% of these tumours will be found to be in the subserosa. This case is of great interest because of the subserosal location of the tumour. Introduction Ectopic pancreas is defined as a pancreatic tissue in an abnormal location with no ductal, anatomical, neuronal, vascular communication with the main body of the pancreas1,2. The incidence of heterotopic pancreas in autopsy studies is approximately 0.55%–13.7% and as low as 0.2% in laparotomies3–5. The ectopic pancreatic tissue can be present anywhere along the gastrointestinal tract1,3–7. Most frequently, it is located in the stomach, the duodenum, the proximal jejunum or the Meckel’s diverticulum8,9. Rarely, it is seen in the ileum, the gallbladder, the bile ducts, the splenic hilum, the umbilicus and the liver10–12. The present report describes a rare case where the ectopic pancreatic tissue was located in the jejunum as a subserosal tumour.","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"389 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88715455","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 : 2013-08-01DOI: 10.13172/2052-0077-2-7-727
I. Wani, H. Jawaid, Sr Mir, A. Wani, P. Shah, Ah Peerzada, B. Malik, S. Malik, B. Teli
epidermoid cyst may get secondarily infected, may lead to pressure over the underlying bone and rarely undergoes malignant transformation. Epidermoid cysts have a welldeveloped granular cell layer and are lined by stratified squamous epithelium; rarely, pseudostratified ciliated columnar epithelium may be present on the cyst wall3. The cyst wall can have dystrophic type calcification. Excision is the treatment of choice2. The aim was to study the occurrence of giant sebaceous cysts.
{"title":"Giant epidermoid cysts","authors":"I. Wani, H. Jawaid, Sr Mir, A. Wani, P. Shah, Ah Peerzada, B. Malik, S. Malik, B. Teli","doi":"10.13172/2052-0077-2-7-727","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-727","url":null,"abstract":"epidermoid cyst may get secondarily infected, may lead to pressure over the underlying bone and rarely undergoes malignant transformation. Epidermoid cysts have a welldeveloped granular cell layer and are lined by stratified squamous epithelium; rarely, pseudostratified ciliated columnar epithelium may be present on the cyst wall3. The cyst wall can have dystrophic type calcification. Excision is the treatment of choice2. The aim was to study the occurrence of giant sebaceous cysts.","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86541918","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 : 2013-08-01DOI: 10.13172/2052-0077-2-8-734
G. Liapis, I. Pateras, Sh AbuArqob, M. López, A. Lazaris
{"title":"Lipomatous hemangiopericytoma-solitary fibrous tumour of low malignant potential","authors":"G. Liapis, I. Pateras, Sh AbuArqob, M. López, A. Lazaris","doi":"10.13172/2052-0077-2-8-734","DOIUrl":"https://doi.org/10.13172/2052-0077-2-8-734","url":null,"abstract":"","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90107618","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 : 2013-08-01DOI: 10.13172/2052-0077-2-7-731
Umesh Jethwani, G. Singh, R. Mohil, V. Kandwal, J. Chouhan, R. Saroha, N. Bansal, R. Verma
{"title":"Limberg flap for pilonidal sinus disease: our experience","authors":"Umesh Jethwani, G. Singh, R. Mohil, V. Kandwal, J. Chouhan, R. Saroha, N. Bansal, R. Verma","doi":"10.13172/2052-0077-2-7-731","DOIUrl":"https://doi.org/10.13172/2052-0077-2-7-731","url":null,"abstract":"","PeriodicalId":19393,"journal":{"name":"OA Case Reports","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90440921","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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