Intractable diarrhoea of infancy caused by neutrophil specific granule deficiency and cured by stem cell transplantation.
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Biomedical subjects
Publications and source records attributed to M Sood.
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We report our experience of using autologous chondrocyte implantation (ACI) to treat osteochondral defects of the knee in combination with anterior cruciate ligament (ACL) reconstruction. The outcome of symptomatic osteochondral lesions treated with ACI following previous successful ACL reconstruction is also reviewed. Patients were followed for a mean of 23 months. Nine patients underwent ACL reconstruction in combination with ACI. Mean modified Cincinnati knee scores improved from 42 to 69 following surgery. Seven patients described their knee as better and two as the same. A second group of nine patients underwent ACI for symptomatic articular cartilage defects following previous ACL reconstruction. In this group, the mean modified Cincinnati knee score improved from 53 to 62 after surgery. Six patients described their knee as better and three as worse. Combined treatment using ACI with ACL reconstruction is technically feasible and resulted in sustained improvement in pain and function. The results following previous ACL reconstruction also resulted in clinical improvement, although results were not as good as following the combined procedure.
Avascular necrosis is a serious complication of slipped capital femoral epiphysis and is difficult to treat. The reported incidence varies from 3% to 47% of patients. The aims of treatment are to maintain the range of movement of the hip and to prevent collapse of the femoral head. At present there are no clear guidelines for the management of this condition and treatment can be difficult and unrewarding. We have used examination under anaesthesia and dynamic arthrography to investigate avascular necrosis and to determine the appropriate method of treatment. We present 20 consecutive cases of avascular necrosis in patients presenting with slipped capital femoral epiphysis and describe the results of treatment with a mean follow-up of over eight years (71 to 121 months). In patients who were suitable for joint preservation (14), we report a ten-year survivorship of the hip joint of 75% and a mean Harris hip score of 82 (44 to 98).
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Inferior vena cava (IVC) aneurysms are extremely rare, with only 18 reported cases in the world literature. These aneurysms are categorized as acquired, congenital, or associated with arteriovenous fistulae. Thrombosis of an IVC aneurysm can lead to IVC syndrome characterized by massive lower extremity edema, pulmonary embolism, or even death. Therapeutic alternatives range from watchful waiting to operative resection. This report presents a case of an IVC aneurysm noted incidentally at the time of diagnostic computed tomography for the evaluation of blunt chest trauma following a motor vehicle collision. In addition, the classification, embryology, diagnosis, and management of this unusual clinical entity are reviewed.
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UNLABELLED: Confirmation of the diagnosis of coeliac disease requires unequivocal evidence of recovery on a gluten-free diet. The lactose H2 breath test is a non-invasive technique for detecting lactose malabsorption, and this may occur in untreated coeliac disease. The utility of this test was investigated in objectively confirming a response to gluten exclusion. The study included 44 children from 0.9 to 14.75 y of age (median 3.2) with coeliac disease. Five children were asymptomatic, being identified through coeliac antibody screening. Breath tests were performed prior to dietary treatment. If positive, they were repeated at 4-wk intervals following gluten exclusion. Overall, 21/44 (48%) children had positive breath tests at presentation. In 18/21 children on a gluten-free diet, this became negative after 4 wk (86%) and in all the children by 8 wk. In two children with positive tests at 4 wk, problems with dietary adherence were identified. A positive test before treatment was not associated with significant differences in individual symptoms, height, weight and body mass index standard deviation scores, serum haemoglobin or albumin. However, no positive results were found in the asymptomatic patients (p = 0.05). Lactose malabsorption was associated with earlier age of presentation (p = 0.008). CONCLUSION: The lactose H2 breath test objectively confirms a response to gluten exclusion. In selected cases it can help confirm a diagnosis of coeliac disease. However, the test tends to be less informative in asymptomatic patients, and in older children.
BACKGROUND: Colonic manometry helps discriminate functional and behavioral causes for childhood constipation from colonic neuromuscular disease. METHODS: Of 375 colonic manometries performed for clinical indications, 12 could not be interpreted because of chronic colonic dilation. Based on colonic manometries that showed either no contractions or an absence of the gastrocolonic response or an absence of high-amplitude propagating contractions, the authors recommended diverting colostomies or ileostomies in 12 chronically constipated children (mean age, 4 years; range, 2-14 years, 5 boys). Before study, medical treatment was ineffective in all children. These children had persistently dilated colons with pathologic diagnoses of intestinal neuronal dysplasia (n = 4), hypoganglionosis (n = 2), hollow visceral myopathy (n = 1), and normal (n = 5). RESULTS: Six to 30 months after diversion, the authors restudied all the children. Eleven of 12 diverted colons were no longer dilated. In two patients, abnormal motility involving the entire colon was unchanged from the initial study, small bowel motility was abnormal, and we recommended no further surgery. In two cases, the colon remained abnormal but small bowel motility was normal, and we recommended subtotal colectomy and ileoproctostomy. In four cases, the left colon remained abnormal, but the right colon was normal, and we recommended reanastomosis after left hemicolectomy. In four cases, motility in the diverted colons was normal, including a gastrocolonic response and high-amplitude propagating contractions, and the authors recommended reanastomosis. Defecation problems resolved in 10 of 12 when followed up 5 to 30 months after treatment. CONCLUSION: These data suggest that in some cases of intractable childhood constipation associated with colonic distention, temporary diversion improved colonic motility. Colonic manometry may be used to predict which patients will benefit from resection or reanastomosis.
AIM: To investigate bone mineral status of children with cystic fibrosis (CF). METHODS: In 29 children with CF and 49 matched controls, bone mineral content (BMC), projected bone area (BA), and areal bone mineral density (BMD) of the whole body, total hip, and lumbar spine (L1-L4) were measured using dual energy x ray absorptiometry. The BMC values at each site were adjusted for BA, height, and weight. At the lumbar spine, the bone mineral apparent density (BMAD) was calculated by dividing the BMC by the estimated volume, derived from BA. Vertebral (T12-L3) trabecular bone mineral density (vTBMD) was measured using quantitative computed tomography in children with CF. Calcaneal broadband ultrasound attenuation (BUA) was measured in CF patients and controls using quantitative ultrasound. The disease severity of CF children was evaluated by the Shwachman-Kulczycki (SK) score. RESULTS: The mean BUA, whole body and regional BA, adjusted BMC, and areal BMD of children with CF were not different from those of controls. The mean BMAD of the lumbar spine was reduced in CF patients compared with controls, whereas the mean vTBMD standard deviation scores were significantly higher in CF patients. The median SK score of the CF group was 81 (range 42-100), indicating that as a group our CF patient population had relatively mild disease. CONCLUSION: The normal vertebral BMC, decreased BMAD, and higher vTBMD suggests that the vertebral cortical thickness or density might be reduced in CF subjects. The overall bone mineral status of CF children with relatively mild disease was not different from size matched controls.
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A case of short rib polydactyly syndrome type I-Saldino Noonan was diagnosed in three successive pregnancies from a non consanguineous couple. Short limbs, short ribs, polydactyly, with visceral anomalies were noted and confirmed on autopsy.
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Post-term choriocarcinoma is an infrequent event with poor prognosis. The diagnosis is usually delayed due to failure to recognise the mode of presentation of this disease. Being a rare occurrence, limited data is available regarding its clinical features. The choriocarcinoma in our patient presented as an isolated huge pedunculated growth over the uterine serosa without intrauterine involvement and distant metastasis.
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Ovarian germ cell neoplasm in pregnancy, with variable outcomes after debulking surgery is described.
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