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Cerebro-costo-mandibular syndrome (CCMS) is a rare multiple congenital anomaly with a low survival rate. There are few reports of long-term survival in this condition. We describe the findings and management of a 9-year-old survivor of CCMS, outline the importance of early intervention and multidisciplinary team approach. The child presented in the neonatal period in respiratory distress with classical features of the syndrome. Aggressive initial respiratory management was later followed up with an integrated multidisciplinary team approach. He has been carefully followed up for nine years now, illustrating well, the course of the syndrome.

[ABSTRACT]  [FULL TEXT]  [PDF] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF] [CITATIONS]  [PubMed]

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AIM: To evaluate the efficacy of modified mesh rectopexy for complete rectal prolapse. SUBJECT AND METHODS: In a prospective study between 1989-1998, 47 patients (25 males and 22 females) underwent modified mesh rectopexy using a "Cross-shaped" knitted monofilament polypropylene. They were followed up for a period of four years postoperatively. RESULTS: Anatomical repair was achieved in all patients. Preoperative constipation, a complaint in 22 patients, was relieved in 13 patients and need for laxatives decreased in another four. There were no new cases of constipation. Sexual functions were not hampered irrespective of gender. The complications included prolonged ileus (4 patients), faecal impaction (1), partial mucosal prolapse (2) and post-operative obstruction (2). There was no recurrence. CONCLUSION: This technique aligns the rectum, avoids excessive mobilisation and division of lateral ligaments thus preventing constipation and preserving potency. We recommend this technique for patients with complete rectal prolapse with up to grade 1, 2 and 3 incontinence based on Browning and Parks classification.

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The application of molecular biology tools to investigate the molecular basis of acute allograft rejection has unravelled many complex mechanisms and improved immunosuppressive therapies leading to significant improvements in graft survival. The "indirect" pathway of antigen presentation has emerged as more important, than the traditional "direct" pathway, for allorecognition by T cells. The recognition that CD28 costimulation is essential for allorecognition has provided novel targets for immunotherapy such as CTLA-Immunoglobulin. Understanding the role of Th1 and Th2 subsets of T helper cells, the cytokine network and cell adhesion molecules in the mediation or prevention of graft rejection has opened new avenues for research into therapeutic modalities. The ideal objective would be to identify the mechanisms of graft destruction and design specific inhibitors. This review highlights recent advances in the understanding of acute renal allograft rejection which may have future potential for rational design of new immunosuppressive strategies.

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A four and half year old epileptic child on phenytoin therapy since one year presented with signs of cerebellar dysfunction. Serum phenytoin level was high (33 mcg/ml) and computerised tomographic scan of the brain showed severe generalised cerebellar atrophy. The cerebellar signs represented drug over dosage and toxicity and persisted long after omission of phenytoin.

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A rare case of primary angiitis of the central nervous system (PACNS) is reported with its clinical and magnetic resonance imaging (MRI) features. A 20-year-old girl presented with headache, projectile vomiting, unsteadiness of gait and urgency of micturition. She had left seventh nerve upper motor neuron type paresis, increased tone in all four limbs, exaggerated deep tendon reflexes, cerebellar signs, and papilloedema. Cerebrospinal fluid showed lymphocytosis with elevated protein and normal glucose level. Cerebral computerised tomographic scan and MRI showed bilateral diffuse asymmetric supra- and infra-tentorial lesions (predominantly in the supratentorial and left cerebrum). On MRI, the lesions were hyperintense on T2, and proton density-weighted images and hypointense on T1-weighted images. Based on the clinical findings of raised intracranial tension and MRI features, initial diagnoses of gliomatosis cerebrii, tuberculous meningitis, primary central nervous system lymphoma and chronic viral encephalitis were considered. PACNS was not included in the initial differentials and, an open brain biopsy was advised which established the definitive diagnosis.

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AIMS: To evaluate and compare the effect of isoflurane, sodium nitroprusside (SNP) and combined use of isoflurane and SNP on body rewarming and haemodynamic stability during active rewarming on cardiopulmonary bypass (CPB). SUBJECTS AND METHODS: In a prospective, randomised study 75 adult patients scheduled for coronary artery bypass grafting (CABG) under CPB were studied in three groups of 25 patients each. During active rewarming, patients of group I received SNP infusion in CPB, group-II received isoflurane through vaporiser in gas circuit of the CPB machine and group III received a combination of isoflurane inhalation (0.2-0.5%) + SNP in low doses (<1mg/kg/min). RESULTS: Mean requirements of SNP to achieve maximum pump flow during rewarming were 1.48 -/+ 0.65 mg/kg/min (range 0.3-3.5 mg/kg/min) in group I and 0.75 -/+ 0.25 mg/kg/min (range 0.2-0.85 mg/kg/min) in group III. Mean isoflurane concentration required to achieve maximum pump flow during rewarming was 0.95 -/+ 0.35% (range 0.2-1.5%) in group II and 0.35 -/+ 0.1 (range 0-0.4%) in group III. The requirements of SNP and isoflurane in group III were significantly less than group I and II (p<0.001). The haemodynamic stability was better in SNP + isoflurane group with significantly lesser requirement of inotropes. Four-scaled assessment for rewarming evaluation failed to show significant statistical difference amongst the groups. CONCLUSIONS: All three drug regimens were equally effective in terms of uniform rewarming of the body on CPB. However, combined use of SNP and isoflurane in low doses provides haemodynamic stability during CPB and is superior to either drug alone.

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AIMS AND OBJECTIVES: To study clinico-investigative profile of 12 young (<45 years) patients with stroke who tested positive for anti phospholipid antibodies (APLA). SUBJECTS AND METHODS: The diagnostic, clinical, laboratory and radiologic features in 12 APLA positive young patients who presented with stroke were studied. The APLA analysis included estimation of anticardiolipin (aCL) antibodies and lupus anticoagulant (LA). Other relevant tests included anti-nuclear antibody, human immunodeficiency virus, Venereal Diseases Research Laboratory, platelet count, echocardiography and carotid Doppler. APLA positive strokes were those cases where either the immunoglobulin G (IgG) and immunoglobulin M (IgM) were raised or LA was positive, and other known causes were excluded. RESULTS: Levels of IgG (aCL) was raised in 11 cases (mild 7, moderate 1, high 3), IgM was elevated in all the 12 cases (moderate 2, high 10). Of the two LA positive cases both were IgM positive but in one IgG was negative. Five patients showed small multiple bilateral cerebral infarcts on computerised tomography (CT) scan. 5 patients had history of recurrent strokes. Hemiparesis was more frequent than hemiplegia. None presented with dense hemiplegia. All patients recovered to normal functional capacity and did not have recurrence on drugs. CONCLUSION: A preliminary study on APLA positive young strokes showed certain clinical and radiological features, mild to moderate stroke, pre-treatment recurrences, multiple smaller infarcts on CT, which could be clustered in a subgroup of stroke in young. Incidentally these patients showed a good prognosis in terms of long term outcome.

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The diagnosis of malignant histiocytosis requires a high index of clinical suspicion, awareness of its atypical features and availability of various tissue samples for morphological and special studies. The case reported here highlights the diagnostic difficulties encountered in a patient diagnosed as malignant histiocytosis who presented with cutaneous lesions in multiple foci, which included the face, groin and forearm. Only after repeated biopsies and special stains, a diagnosis of malignant histiocytosis was arrived at. Chemotherapy with CHOP regimen (cyclophosphamide, doxorubicin, vincristine and prednisone) was initiated. The response to chemotherapy was good and the patient is doing well eleven months after initial diagnosis.

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AIM: To determine the effect of reducing number of daily measurements on estimation of diurnal variability (DV) of peak expiratory flow (PEF). SUBJECTS AND METHODS: PEF was recorded five times daily for three days in 152 healthy adults. Amplitude percent mean (A%M) and standard deviation percent mean (SD%M) were calculated on third day from five, four, three and two daily readings. Proportion of variability explained by partial schedules was calculated and limits of agreement derived to assess if these methods could be used interchangeably. RESULTS: Four, three and two measurements explained 90-95%, 70-82% and 55% DV respectively using A%M. All schedules of partial measurement using SD%M explained >90% DV. Limits of agreement for A%M and SD%M widened as number of measurements were reduced. CONCLUSIONS: DV obtained by fewer daily measurements agrees poorly with results obtained from five measurements. SD%M is a better alternative if DV is assessed from fewer readings.

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