1/6. Heteromorphism 18ph : with or without reproductive consequences?Heteromorphism or chromosomal variants are usually attributed to structural variations in constitutive heterochromatin. In the case of chromosome 18, 25 cases of 18ph have been reported to date. Using the Primed In Situ Labelling technique (PRINS) to study 2 new cases of 18ph , we have been able to confirm their molecular nature and assuming a mechanism of formation. Although such chromosomal variants are usually thought to have no adverse clinical consequence, a review of the literature shows that many cases were diagnosed because of recurrent abortion, malformed or mentally retarded children suggesting the possible relationship between 18ph and such clinical outcomes.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/6. Thoracic cystic lymphangioma (cystic hygroma): a chest pain syndrome--a case report.vascular malformations of the mediastinum including mediastinal lymphangioma are exceedingly rare in adults. A resected case of mediastinal cystic lymphangioma (cystic hygroma) that presented with acute onset of retrosternal chest pain is reported in a 45-year-old man. Cystic hygromas are benign cysts frequently discovered incidentally on chest radiograph. Although computed tomography scan provides helpful information about the size, density, and site of the cysts, it cannot establish a precise diagnosis concerning its nature. Complete removal of the cyst is the treatment of choice and allows precise diagnosis on histologic examination. However, surgical excision is sometimes difficult, owing to the size and extension of the cysts, infiltrating mediastinal planes, enveloping great vessels, and displacing mediastinal organs without invasion. The difficulty of completely eradicating certain cysts explains cases of insidious progression with compressive recurrence. The subject is succinctly reviewed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/6. Cystic lymphangioma of the jejunal mesentery in an adult: a case report.We herein describe the case of a 27-year-old female, who presented with a large mass of the upper left abdominal cavity discovered incidentally, through an annual health examination. Preoperative studies including abdominal ultrasonography and magnetic resonance imaging were performed, but they could not accurately determine the nature of the tumor. At laparotomy, a large cystic tumor of the small bowel mesentery was found. Histopathologic examination diagnosed the tumor as a cystic lymphangioma. Although lymphangiomas are rare, especially in the abdomen of adults, they may sometimes present as acute abdomen, causing complications that require emergent surgery.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/6. Mesenteric cystic lymphangiomas--a report of five cases.Five cases of cystic lymphangiomas are described. There were three children and two adult patients. Age ranged from 4 to 38 years. All the patients presented with pain abdomen. On examination, four out of five patients were found to have an ill defined lump abdomen. One patient had no abdominal symptoms. Abdominal ultrasonography done in all the cases revealed the cystic nature of the tumour thereby making the pre operative diagnosis easier. A histological diagnosis of cystic mesenteric lymphangioma was made in each case. Although mesenteric lymphangiomas are rare, they should be considered as a possible cause of acute abdomen, both in children and adults.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/6. Cystic hygroma.Cystic hygroma (CH) is a benign, developmental condition of unknown etiology. 90% of the cases are present by age 2. CH represents malformed lymphatics that fail to communicate with larger veins and, therefore, they collect lymph. It is a type of lymphangioma. The clinical presentation is one of a painless, soft mass that reaches a giant size and can lead to the death of the infant. The diagnosis is done with CT scan and biopsy. We report a severe case of CH and describe the difficult surgical treatment, despite the benign nature of the lesion.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/6. Changing dysmorphology of trisomy 18 during midtrimester.A fetus affected by trisomy 18 was observed serially on ultrasound from 14 to 21 weeks of gestation. The earliest and sole dysmorphic feature noted at 14 weeks of gestation were nonseptated nuchal cysts. At 17 weeks the ultrasound examination was considered normal. However, at 21 weeks gestation, bilateral choroid plexus cysts, clubfoot, growth retardation and overlapping fingers were observed. These findings suggest that the dysmorphology associated with trisomy 18 is dynamic in nature and may change along the course of pregnancy.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |