Gaucher's disease is not commonly considered in the differential diagnosis of adu... more Gaucher's disease is not commonly considered in the differential diagnosis of adult patients with hepatosplenomegaly and increased serum ACE. A 19-year-old girl presented with recurrent epigastric and left hypochondrial pain over a period of 9 years, associated with episodes of nausea and diarrhoea. She was extensively investigated and found to have splenomegaly and raised serum ACE. A screen for haematological disorders was negative. She reported an insect bite during an overseas holiday preceding her symptoms. She was therefore also screened for infectious causes of hepatosplenomegaly but without success. Later on in life, she reported joint pain and discomfort. Sarcoidosis was thought to be the putative cause on more than one occasion. However, the presence of splenomegaly and her relatively young age, led the rheumatologist to the correct diagnosis.
Sarcoidosis can manifest with clinical signs suggestive of pulmonary embolism (PE). A 36-year-old... more Sarcoidosis can manifest with clinical signs suggestive of pulmonary embolism (PE). A 36-year-old male patient presented with a 2-day history of left-sided pleuritic chest pain and dyspnoea. He was hypoxicand tachypnoeic, and initial blood tests showed a positive plasma D-dimer. Subsequent arterial blood gas showed respiratory alkalosis with type 1 respiratory failure. He was suspected to have a PE, and CT pulmonary angiogram (CTPA) was urgently arranged. This latter investigation did not show any impairment in pulmonary arterial blood flow but revealed bilateral hilar and mediastinal lymphadenopathy suggesting sarcoidosis. Serum calcium and ACE were also elevated. The patient was treated conservatively and discharged after 2 days with out-patient endobronchial ultrasound and clinic follow-up arranged.
Aim. To evaluate the efficacy of the Peristeen D transanal irrigation system when treating faecal... more Aim. To evaluate the efficacy of the Peristeen D transanal irrigation system when treating faecal incontinence in children due to chronic idiopathic constipation. Methods. A retrospective study was conducted of the first cohort of patients affected with faecal incontinence and referred to our centre for Peristeen D transanal irrigation treatment between January 2010 and December 2012. Patients with neurogenic bowel disturbance were excluded. A previously described and validated faecal continence scoring system was used to assess bowel function and social problems before and after treatment with Peristeen D . Results. 13 patients were referred for Peristeen D transanal irrigation during the study period. Mean time of using Peristeen D was 12.6 months (±0.6 months) and mean length of follow-up was 21.2 months (±0.9 months). All patients were noted to have an improvement in their faecal continence score, with a mean improvement from 9.7 ± 1.4 to 14.8 ± 2.7 ( = 0.0008) and a reduction in episodes of soiling and increasing in quality of life scores. Conclusion. In this initial study, Peristeen D appears to be a safe and effective bowel management system, which improves bowel function and quality of life in children affected with faecal incontinence as a result of chronic idiopathic constipation, Hirschsprung's disease, and anorectal malformations.
Pediatric laparoscopic appendicectomy in the presence of an appendicular mass following recurrent... more Pediatric laparoscopic appendicectomy in the presence of an appendicular mass following recurrent appendicitis can represent an operative challenge. To address this problem, we describe a laparoscopic technique, which involves a retrograde appendicectomy combined with trans-mesoappendicular and selective subserosal dissection thus preventing the possible damage to the surrounding anatomical structures. This technique has been reported in open appendectomy. However, to the best of our knowledge, it has never been described using the laparoscopic approach.
Gaucher's disease is not commonly considered in the differential diagnosis of adu... more Gaucher's disease is not commonly considered in the differential diagnosis of adult patients with hepatosplenomegaly and increased serum ACE. A 19-year-old girl presented with recurrent epigastric and left hypochondrial pain over a period of 9 years, associated with episodes of nausea and diarrhoea. She was extensively investigated and found to have splenomegaly and raised serum ACE. A screen for haematological disorders was negative. She reported an insect bite during an overseas holiday preceding her symptoms. She was therefore also screened for infectious causes of hepatosplenomegaly but without success. Later on in life, she reported joint pain and discomfort. Sarcoidosis was thought to be the putative cause on more than one occasion. However, the presence of splenomegaly and her relatively young age, led the rheumatologist to the correct diagnosis.
Sarcoidosis can manifest with clinical signs suggestive of pulmonary embolism (PE). A 36-year-old... more Sarcoidosis can manifest with clinical signs suggestive of pulmonary embolism (PE). A 36-year-old male patient presented with a 2-day history of left-sided pleuritic chest pain and dyspnoea. He was hypoxicand tachypnoeic, and initial blood tests showed a positive plasma D-dimer. Subsequent arterial blood gas showed respiratory alkalosis with type 1 respiratory failure. He was suspected to have a PE, and CT pulmonary angiogram (CTPA) was urgently arranged. This latter investigation did not show any impairment in pulmonary arterial blood flow but revealed bilateral hilar and mediastinal lymphadenopathy suggesting sarcoidosis. Serum calcium and ACE were also elevated. The patient was treated conservatively and discharged after 2 days with out-patient endobronchial ultrasound and clinic follow-up arranged.
Aim. To evaluate the efficacy of the Peristeen D transanal irrigation system when treating faecal... more Aim. To evaluate the efficacy of the Peristeen D transanal irrigation system when treating faecal incontinence in children due to chronic idiopathic constipation. Methods. A retrospective study was conducted of the first cohort of patients affected with faecal incontinence and referred to our centre for Peristeen D transanal irrigation treatment between January 2010 and December 2012. Patients with neurogenic bowel disturbance were excluded. A previously described and validated faecal continence scoring system was used to assess bowel function and social problems before and after treatment with Peristeen D . Results. 13 patients were referred for Peristeen D transanal irrigation during the study period. Mean time of using Peristeen D was 12.6 months (±0.6 months) and mean length of follow-up was 21.2 months (±0.9 months). All patients were noted to have an improvement in their faecal continence score, with a mean improvement from 9.7 ± 1.4 to 14.8 ± 2.7 ( = 0.0008) and a reduction in episodes of soiling and increasing in quality of life scores. Conclusion. In this initial study, Peristeen D appears to be a safe and effective bowel management system, which improves bowel function and quality of life in children affected with faecal incontinence as a result of chronic idiopathic constipation, Hirschsprung's disease, and anorectal malformations.
Pediatric laparoscopic appendicectomy in the presence of an appendicular mass following recurrent... more Pediatric laparoscopic appendicectomy in the presence of an appendicular mass following recurrent appendicitis can represent an operative challenge. To address this problem, we describe a laparoscopic technique, which involves a retrograde appendicectomy combined with trans-mesoappendicular and selective subserosal dissection thus preventing the possible damage to the surrounding anatomical structures. This technique has been reported in open appendectomy. However, to the best of our knowledge, it has never been described using the laparoscopic approach.
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