Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1979 Cohen et Hayden and in 1983 Wiedemann et al. delineated a syndrome consisting of partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Hitherto the literature pertaining to this syndrome consists of somewhat more than 100 cases of which some, that have been described previously or subsequently under other headings, were rediagnosed as being Proteus syndromes. Of these, more than half show vascular anomalies closely resembling those observed in the Klippel-Trenaunay syndrome, but in the Proteus syndrome appear to be more haphazardly distributed over the integument. We report 3 pediatric patients with the Proteus syndrome, all showing cutaneous angiodysplasias. These patients were initially diagnosed as suffering from "severe or atypical Klippel-Trenaunay syndrome". In one of these, cardiac tumors were observed soon after birth which subsequently showed spontaneous involution and were therefore considered to be rhabdomyomas. In the Proteus syndrome cardiac pathology is rare, and cardiac tumors have not been described previously. Moreover, we observed umbilical hernia in two of our patients, a feature which has hitherto not been reported in patients with the Proteus syndrome. In all our patients a broad thoracic cage resembling a "body-builders chest", asymmetrical and disproportional macrodactyly and broad, flat feet were conspicuous. These broad, flat feet with macrodactyly and large spaces between the first and second digits were designed by the parents of one of our patient as "chimpanzee's feet". Macrodactyly, "chimp's" feet and a broad thoracic cage are considered by us to be clinical hallmarks of the Proteus syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Proteus syndrome. Expansion of the phenotype. Apropos of 3 pediatric cases]. 133 4

Massive ventricular dilatation causes stretching and dehiscence of the fornix with formation of unilateral or bilateral pial pulsion diverticula of the inferior medial wall of the atrium. Enlargement of the pial pouch creates a dramatic subarachnoid cyst that may herniate downward through the incisura into the lateral mesencephalic, precentral cerebellar, and superior vermian cisterns where it displaces the brain stem, vermis, and fourth ventricle. Lateral ventricular diverticula may be identified and distinguished from the dilated fourth ventricle and dilated suprapineal recess, with which they are so commonly confused, when all of the following signs are apparent on computed tomography (CT): (1) marked unilateral or bilateral atrial dilatation; (2) focal dehiscence of the medial atrial wall; (3) ipsilateral shortening of the tentorial band in axial section; (4) focal defect in the tentorial band in coronal section; (5) draping of the medial atrial wall over the free margin of tentorium, with continuity of cerebrospinal fluid density around the edge of tentorium in axial and/or coronal sections; (6) bowing of the crus (or crura) of fornix; (7) separation of fornix from splenium, with visualization of the hernia ostium; (8) asymmetrical position of the choroid plexi, which attach to and define the lateral borders of the fornices; (9) contralateral displacement of the internal cerebral veins; and (10) septa separating diverticulum from third ventricle
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PMID:Atrial diverticula in severe hydrocephalus. 680 75

Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.
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PMID:[Unilateral pulmonary agenesis, aplasia and dysplasia]. 1931 94

Results of our analysis show as that breast reconstruction become a standard part of the care of female patients with breast cancer We will analyse the factors that are important for the primary or secondary breast reconstruction after mastectomy, and also take a closer look on the most recent scientific advances on breast reconstruction and on the protocols regarding them. The breast is the most common site of cancer in Croatia women. Breast cancer is the first leading cause of cancer death among women today. The incidence of female breast cancer in Croatia estimates that approximately 2.200 news cases of female breast will be diagnosed every year. We retrospectively analysed data of 101 female patients undergoing reconstructive surgery for breast reconstruction after mastectomy at Division of Plastic Surgery and Burns, University Hospital Center Split and University Clinic of Plastic and Reconstructive Surgery, Innsbruck, Austria, between 1998 and 2008. For the purpose of outcome assessment, we performed the tree different type of questionnaire: (1) Personal/medical profile (Table 1), (2) Aesthetic assessment (Table 2), and (3) Psychosocial assessment (Table 3). The occurrence of main complications during breast reconstruction (partial necrosis of flap, hernia of donor site, pulmonary embolism, deep venous thrombosis, infection rate, hemathoma and seroma formation, and extrusion of expander/implant) during hospitalisation and follow up period until 6 post operatively were analysed with respect to use different type of reconstructive methods for breast reconstruction. The difference in complication between patients groups was evaluated by chi2-test. The level of significance was set up at p = 0.05. Mann-Whitney test was used to compare the time from mastectomy to breast reconstruction, due to asymmetrical data distribution. The three main variables of this study were to identify significant risk factors, asses the aesthetic outcome, and patient satisfaction with performed different methods for breast reconstruction (LD flap with or without tissue expander and implant, pedicle and free TRAM flaps, and expander /implants only. These variables determined the current guidelines for early and late breast reconstruction after mastectomy such as patient data, age and own decision, relation ship between reconstruction and radiotherapy, and chemotherapy, and finally about breast preserving operation. The result should confirm that breast reconstruction after mastectomy is justified, especially in young women, as well as how essential is team work involved in breast cancer operation and breast reconstruction after mastectomy.
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PMID:Breast reconstruction after mastectomy. 2040 6

Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences.
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PMID:Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. 2148 99

Congenital peritoneal encapsulation (CPE) is a very rare, congenital condition characterised by the presence of an accessory peritoneal membrane which encases a variable extent of the small bowel. It is unclear how CPE develops, however it is currently understood to be a result of an aberrant adhesion in the peritoneal lining of the physiological hernia in foetal mid-gut development. The condition was first described in 1868, and subsequently there have been only 45 case reports of the phenomenon. No formal, systematised review of CPE has yet been performed, meaning the condition remains poorly understood, underdiagnosed and mismanaged. Diagnosis of CPE remains clinical with important adjuncts provided by imaging and diagnostic laparoscopy. Two thirds of patients present with abdominal pain, likely secondary to sub-acute bowel obstruction. A fixed, asymmetrical distension of the abdomen and differential consistency on abdominal palpation are more specific clinical features present in approximately 10% of cases. CPE is virtually undetectable on plain imaging, and is only detected on 40% of patients with computed tomography scan. Most patients will undergo diagnostic laparotomy to confirm the diagnosis. Management of CPE includes both medical management of the critically-unstable patient and surgical laparotomy, partial peritonectomy and adhesiolysis. Prognosis following prompt surgical treatment is excellent, with a majority of patients being symptom free at follow up. This review summarises the current literature on the aetiology, diagnosis and treatment of this rare disease. We also introduce a novel classification system for encapsulating bowel diseases, which may distinguish CPE from the commoner, more morbid conditions of abdominal cocoon and encapsulating peritoneal sclerosis.
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PMID:Congenital peritoneal encapsulation: A review and novel classification system. 3114 1