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INTRODUCTION: Benign mesenteric lipodystrophy is rare and often presents in a non-specific fashion. Imaging findings may mimic a range of malignant conditions, particularly malignant ovarian disease in women. CASE PRESENTATION: We present the case of a 61-year-old Caucasian woman who was referred to the gynaecology service at our institution and was thought to have ovarian malignancy, and required a laparotomy. However, histopathological analysis unexpectedly revealed benign mesenteric lipodystrophy. CONCLUSION: Benign mesenteric lipodystrophy may mimic a range of conditions, particularly malignancy.
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OBJECTIVE: To characterise the phenotypes associated with the p.A16V mutation of PRSS1. DESIGN: Clinical and epidemiological data were collected for any family in which a p.A16V mutation was identified, either referred directly to the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer or via a collaborator. DNA samples were tested for mutations in PRSS1, SPINK1, CFTR and CTRC. PATIENTS: Participants were recruited on the basis of either family history of pancreatitis (acute or chronic) or the results of genetic testing. Families were categorised as having hereditary pancreatitis (HP), idiopathic disease or pancreatitis in a single generation. HP was defined as >or=2 cases in >or=2 generations. Main outcome measures Onset of painful episodes of pancreatitis, death from pancreatic cancer, diagnosis of diabetes mellitus and exocrine pancreatic failure. RESULTS: Ten families with p.A16V mutations were identified (22 affected individuals): six HP families, three with idiopathic disease and one with only a single generation affected. The median age of onset, ignoring non-penetrants, was 10 years (95% CI 5 to 25). There were eight confirmed cases of exocrine failure, four of whom also had diabetes mellitus. There were three pancreatic cancer cases. Two of these were confirmed as p.A16V carriers, only one of whom was affected by pancreatitis. Those with p.A16V pancreatitis were compared to affected individuals with p.R122H, p.N29I and no PRSS1 mutation. No significant differences were proven using logrank or Mann-Whitney U tests. CONCLUSIONS: Penetrance of p.A16V is highly variable and family dependent, suggesting it contributes to multigenic inheritance of a predisposition to pancreatitis.
Subject(s)
Mutation , Pancreatitis/genetics , Penetrance , Trypsin/genetics , Adolescent , Adult , Age of Onset , Carrier Proteins/genetics , Child , Child, Preschool , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Female , Genetic Predisposition to Disease , Heterozygote , Humans , Infant , Male , Middle Aged , Neoplasm Proteins/genetics , Pancreatic Neoplasms/genetics , Pedigree , Trypsin Inhibitor, Kazal Pancreatic , Young AdultABSTRACT
Cholecystitis caused by Campylobacter is rare with only 14 cases found in the literature. This case describes a 71-year-old man who presented with right hypochondrial abdominal pain due to a gangrenous gallbladder identified at laparotomy. Culture of a bile sample identified a slow-growing gram-negative bacterium identified as Campylobacter jejuni. After a poor clinical response, this identification allowed targeted antibiotic treatment resulting in a slow but successful recovery and discharge 17 days postoperatively. This case demonstrates the importance of considering rare organisms in severe acute cholecystitis and ensuring appropriate cultures are performed, particularly in those who fail to respond to initial antimicrobial treatment.
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Diverticular disease is very common and may cause symptoms of psoas irritation because of contiguous inflammation arising from the colon affecting the retroperitoneum. Retroperitoneal perforation is rare and is marked by free gas in the adjacent musculature. Rarely infection and associated gas may track into the lower limbs; however, if adequate drainage can be achieved, surgery in the unfit may be avoided. We present a case of a 79-year-old woman with retroperitoneal perforation of diverticular disease presenting with free gas in the leg musculature that was managed conservatively because of associated comorbidities and was associated with the formation of a cutaneous faecal fistula in the lower limb.
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BACKGROUND: This study evaluates laser ablation of large polyps and cancer of the rectum in poor-risk surgical patients. METHODS: We performed a retrospective review of treatment of rectal lesions with the neodymium yttrium aluminium garnet (Nd:YAG) laser. Biopsy was performed before the first and subsequent therapies. Large lesions were initially debulked by diathermy snare. Biopsies were performed on suspicious areas at follow-up after completion of therapy. RESULTS: Three patients with unresectable rectal cancer had symptom control over a mean period of 15.7 months and 12 patients with large polyps over 60.6 months since the start of therapy. Indications in polyps were carpeting of the rectum (n = 3), proximity to sphincter (n = 1), or comorbidity (n = 8). No complication occurred; however, there was 1 treatment failure. None of the patients with polyps developed cancer during a mean follow-up interval of 14 months after final treatment. CONCLUSIONS: Outpatient laser therapy is safe, repeatable, and effective in the local control of rectal lesions.
Subject(s)
Adenocarcinoma/radiotherapy , Colonic Polyps/radiotherapy , Low-Level Light Therapy/methods , Palliative Care/methods , Quality of Life , Rectal Neoplasms/radiotherapy , Adenocarcinoma/mortality , Adenocarcinoma/pathology , Aged , Aged, 80 and over , Colonic Polyps/mortality , Colonic Polyps/pathology , Female , Follow-Up Studies , Humans , Male , Middle Aged , Neodymium , Neoplasm Staging , Proctoscopy , Rectal Neoplasms/mortality , Rectal Neoplasms/pathology , Retrospective Studies , Risk Assessment , Survival Analysis , Treatment OutcomeABSTRACT
BACKGROUND: Endoscopic laser treatment offers rapid relief from dysphagia. The major drawback of laser therapy is the need for repeated treatment at 4- to 6-week intervals. Laser therapy is often done in tertiary referral centres and is said to require special expertise that is not available in many peripheral hospitals. For smaller centres, intubation is likely to be the only treatment option even though it gives less quality of palliation. AIM: To report the experience of a district general hospital in laser treatment of malignant dysphagia. METHODS: A retrospective study on patients who had laser therapy for relief from malignant dysphagia from march 1995 to January 2000 was performed in a district general hospital in the UK. RESULTS: Forty patients (25 males and 15 females) with histologically proven oesophageal carcinoma were unsuitable for surgical resection. Trainees, under supervision, did 20% of the sessions. Treatment was done on a day case basis with no outpatient follow-up. The patients had direct access to the service whenever dysphagia got worse. The median number of sessions per patient was 4 (range 1-13). The median palliation period per session was 7 (range 1-32) weeks. The median total palliation period was 7 months. There was no procedure-related mortality. CONCLUSION: Laser therapy is a safe, easy to teach and learn technique for relief from malignant dysphagia. It can be done on a day case basis with minimum need for follow-up and hospital visits. Such a service could be provided in a district general hospital set-up once equipment and experience are available, thus saving patients from having to travel to specialist units.