Biomedical subjects

A Kartheuser

Publications and source records attributed to A Kartheuser.

48 records · Page 3Linked to original sources

PubMedDate not supplied

[Familial adenomatous polyposis: what is new for the clinician?].

Familial adenomatous polyposis (FAP) is a rare autosomal-dominant disease characterized by the development of more than 100 colorectal adenomatous polyps in young adults. In the absence of surgical intervention, colorectal cancer ineluctably develops in all affected patients. Recent progress in the isolation of the gene responsible for the disease allows to detect gene carriers before they present with symptoms attributable to polyps. Moreover, the presence of four or more lesions of congenital hypertrophy of the retinal pigment epithelium is an extracolonic manifestation of FAP allowing presymptomatic screening of this disease. An effective screening programme combined with the elaboration of a registry for FAP and prophylactic colectomy should reduce mortality related to colorectal cancer. Two other extracolonic manifestations of FAP remain major causes of death: abdominal desmoid tumors and duodenal adenocarcinoma. At this time, no effective medical or surgical therapy has been found to cure these lesions. Restorative proctocolectomy with ileal reservoir is another major advance. This procedure is now regarded as the treatment of choice for patients with FAP because radical removal of all premalignant colorectal mucosa eliminates the risk of subsequent development of a colorectal adenocarcinoma.

Adenomatous Polyposis Coli↗

PubMedDate not supplied

[Ileo-anal pouch anastomosis: results in ulcero-hemorrhagic rectocolitis and in familial adenomatous polyposis].

Two hundred twenty-four ileal pouch-anal anastomoses have been made, 122 for ulcerative colitis and 102 for familial adenomatous polyposis. All the patients had a J pouch and a diverting temporary ileostomy. Mortality was 0.5%. Twenty-eight % of the patients with ulcerative colitis and 24% of the patients with familial adenomatous polyposis had various postoperative complications. Seventy-two patients with ulcerative colitis had a follow-up of more than one year. They had a mean of 4.6 stools per 24 hours; 84% had a normal day-time continence and 70% a normal nocturnal continence. Sixty-nine patients with familial adenomatous polyposis had a follow-up of more than one year. They had a mean of 4.1 stools per 24 hours; 93% had a normal daytime continence and 91% a normal nocturnal continence. In conclusion, ileal pouch-anal anastomosis can be made safely, with good functional results.

Adenomatous Polyposis Coli↗

PubMedDate not supplied

[Hydatid cysts of the liver].

The authors present a series of 33 cases of hydatid liver disease; 28 patients are operated upon. Ultrasound and parasitology permits an easy diagnosis. Surgical treatment has to be simple: resection of the cyst dome and subtotal pericystectomy guarantee low mortality and recurrence rate. The hospital mortality of this series is 7% (2/28 pat.); the cyst recurrence rate 2.7% (1/37 treated cysts). Surgery of the hydatid cyst necessitates a complete peroperative exploration of the bile duct and the residual cyst cavity by peroperative cholangiography and injection of methylene blue. Biliary fistulas have to be treated in accordance to their importance, by simple suture or intubation with transhepatic drainage. An adequate follow-up is only possible by repeated serological examinations.

Adolescent↗

PubMedDate not supplied

[Diaphragmatic eventration and paralysis in children].

Diaphragmatic relaxation is either congenital, due to muscular dysplasia ("eventration"), or acquired and related to phrenic nerve lesion ("paralysis"); phrenic nerve paralysis can be a complication of a difficult delivery (breech presentation or forceps) or of a surgical--mostly cardiac--procedure. The authors review their own experience (12 eventrations and 9 paralysis) and recall the pathophysiology, the symptoms and treatment of this condition. They recommend the surgical plication, as most experienced authors do, when the symptoms are not completely alleviated by medical treatment which should be of short duration and must include intubation and assisted ventilation in case of acute respiratory distress.

Diaphragm↗

PubMedDate not supplied

The clinical [corrected] background of familial adenomatous polyposis. History, epidemiology, diagnosis and treatment.

Familial adenomatous polyposis (FAP) is a dominantly inherited genetic disorder predisposing to colon cancer through the early development of multiple adenomatous polyps in the large bowel. FAP is not restricted to the colon and rectum, but is a more complex disease which can potentially affect almost any organ not only with benign tumours but also with life threatening carcinomas. Desmoid tumours and gastroduodenal polyps and cancer are the two more worrying extracolonic manifestations of FAP. Recent advances in FAP knowledge, such as the report of congenital hypertrophy of the retinal pigment epithelium (CHRPE) or the APC gene identification, are very useful for screening and long-term follow-up of the patients through regional or national registries. Nutritional and pharmacological intervention trials are under way to assess potential new medical treatments of FAP. Surgery is still the only effective treatment for colorectal cancer prevention in FAP. The choice of a surgical procedure is controversial, but the introduction of total proctocolectomy with ileal pouch-anal anastomosis can be considered as a major advance in surgical treatment of FAP during the last decade.

Abnormalities, Multiple↗

PubMedDate not supplied

Acute colonic complications after kidney transplantation.

Over a 30-year period (1963-1993), 12 patients out of 2091 renal allograft recipients (0.5%) were identified for an acute colonic complication. They were 7 males and 5 females with a mean age of 43 years. The mean elapsed time from transplantation to symptoms was 55 months. Peritonitis was diagnosed in all cases, requiring an emergency laparotomy in 6 patients (50%); delayed surgery was possible in 4 patients (33%) after failure of conservative treatment. One patient (9%) was operated electively later on while the last patient died before any surgery from sepsis after diffuse bowel ischaemia. Aetiology included complicated diverticulitis in 9 instances (75%), one colon perforation caused by faecal impaction, one cytomegalovirus colitis and one bowel ischaemia. Another patient died postoperatively after colon resection for perforated diverticulitis. The use of cyclosporine since 1985 did not reduce the incidence of colonic complication. In conclusion aggressive medical support and early surgical exploration are mandatory for renal recipients presenting with an acute colonic complication.

Abdomen, Acute↗

PubMedDate not supplied

Primary melanosarcoma of the rectum.

We report two cases of anorectal malignant melanoma observed these last four years in the department. The first case was a 62-year-old female patient, and the second case was a 68-year-old male patient. Both suffered from a primary rectal tumour, arising from the rectum, with an intact anal canal. There were pulmonary metastases in the latter patient. At rectal biopsies, tumours were poorly differentiated and diagnosis of malignant melanoma could only be established by the complementary immuno-histochemical methods. The first patient had an AP excision of the rectum and died from generalized disease seven months later. In the second case, only palliative irradiation was carried out and the patient died six weeks later. Literature review confirms that rectal melanoma is a very rare tumour. Diagnosis is difficult, especially in the amelanotic forms. Prognosis remains very poor and the best therapeutic approach is still controversial.

Aged↗

PubMedDate not supplied

Primary squamous-cell carcinoma of the colon: a case report.

We report a new case of S.C.C. of the large bowel with multiple liver metastases. A resection of the primary tumour and liver biopsies were performed with administration of a postoperative chemotherapy (5-Fluorouracil). After a stabilization of 3 months, the metastases were rapidly progressive and the patient died a year after the diagnosis. About 70 cases of S.C.C. of the colon and rectum have been described in the literature. It is most common in the fifth decade and occurs equally in male and female. The most frequent locations are the rectum and the sigmoid. Clinical and physical features and common diagnostic methods do not differentiate the S.C.C. from adenocarcinoma. Treatment is the same but the prognosis of S.C.C. appears to be worse than that of adenocarcinoma.

Carcinoma, Squamous Cell↗

PubMedDate not supplied

[Place of endorectal echography in the diagnosis and treatment of sessile villous tumors of the rectum].

Appropriate treatment of villous adenomas of the rectum remains a challenge, since accurate diagnosis can only be established after total removal of the lesion. The aim of the study was to assess the contribution of endorectal ultrasound (EUS) to diagnosis and treatment of these tumours. From 1989 to 1992, 22 patients with 24 villous adenomas of the rectum had preoperative EUS. Sixteen tumours were C1 (< 1/3 of the rectal circumference), 6 were C2 (between 1/3 and 2/3), and 2 were C3 (> 2/3). Multiple biopsies showed slight or moderate dysplasia in 12 cases, severe dysplasia or islets of invasive cancer in 12 cases. Depth of tumoural invasion could not be established. Tumours were staged by EUS as uT1 (no malignant infiltration) in 17 cases, uT2 and uT3 (invasive cancers) in 5 and 2 cases respectively. Patients had local excision of the tumours in 21 cases, and a radical rectal resection in 3. Accuracy of pathological sampling and EUS for diagnosis were evaluated, as well as the contribution of EUS to the treatment. Multiple biopsies achieved a 62% accuracy rate of diagnosis. Sensitivity in detecting invasive cancer was 71.5%. EUS reached a 92% accuracy rate; sensitivity and specificity in detecting invasive cancers were 85% and 94% respectively. The initial therapeutic option was modified in 6 patients as result of EUS stadification: undelayed surgery instead of iterative coagulations (n = 1), radical instead of local resection (n = 2) and local instead of rectal resection (n = 3).(ABSTRACT TRUNCATED AT 250 WORDS)

Adenoma, Villous↗

PubMedDate not supplied

The genetic background of familial adenomatous polyposis. Linkage analysis, the APC gene identification and mutation screening.

Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited disease that predisposes to colorectal cancer and is characterized by the presence of hundreds to thousands of adenomas covering the colon and rectum. Mapping of the FAP locus to 5q21-q22 by linkage studies in families ultimately allowed the identification of the APC (Adenomatous Polyposis Coli) gene itself. The APC gene comprises 15 exons with a 9 kilobase RNA transcript and a 312 kilodalton final protein product. This discovery transformed the diagnosis of FAP and offered direct identification of defective gene carriers by mutation screening. Currently used techniques have been successful in detecting mutations in 15 to 67 percent of patients. To date, at least 136 different mutations have been described in 301 unrelated FAP patients, most of which (98%) are translation terminating mutations leading to a truncated final protein product. Promising applications or development of novel procedures, like the protein truncation test (PTT), are under way for the remaining FAP patients. With the exception of the description of a critical boundary in exon 9 for the presence or absence of CHRPE, there are no clear genotype-phenotype relationships, but mutations located in the 5' half of exon 15 seem to lead to a more severe phenotype. Very little is know about the APC protein product function. The APC protein could be involved in cell-to-cell signalling and/or cell adhesion functions. The APC gene is a tumour suppressor gene involved in early stages of sporadic colorectal carcinogenesis. Further understanding of the APC gene function may define a rational approach for early detection, prevention strategies, assessment of prognosis and treatment of colorectal cancer. In this regard, animal models of FAP, like the MIN (Multiple Intestinal Neoplasia) mouse or the APC 1638 mouse, are promising and powerful tools.

Adenomatous Polyposis Coli↗

PubMedDate not supplied

[Hemorrhoids. Review].

Correct definition of haemorrhoidal disease allows the estimation of the incidence and the therapeutic choices. The term "haemorrhoidal disease" should be used specifically for symptoms secondary to abnormalities of the intern haemorrhoidal plexus. The classification of severity is useful but difficult to apply to individual cases. The aetiopathogenesis remains unclear. Many arguments are in favour of a progressive degeneration of the fibromuscular structure of the internal haemorrhoidal plexus responsible for his prolapse in the anal canal. Most patients suffering from haemorrhoids are relieved by simple dietary advice. Moderate prolapsing haemorrhoids are significantly improved by rubber band ligation. Surgical haemorrhoidectomy remains the procedure of choice in patients with advanced prolapsing haemorrhoids.

Aged↗

PubMedDate not supplied

Perianal condylomata acuminata.

Anal and perianal condylomata acuminata are warts caused by infection with the human papillomavirus (HPV). The annual incidence of genital warts seems to have increased during the past few decades. Approximately 1.5 million consultations per year take place in the United States with this condition (1). Papillomavirus is a sexually transmitted disease, and is associated with several other venereal infections as well as with intraepithelial neoplasia and invasive squamous carcinoma. Only certain genotypes of HPV are carcinogenic, and can be precisely identified by in situ hybridisation techniques. There are many therapeutic alternatives, possibly reflecting the wide variability in treatment response.

Adult↗