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Biomedical subjects

R Carachi

Publications and source records attributed to R Carachi.

At least 19 recordsLinked to original sources

Immunoreactive trypsin levels in neonates with meconium ileus.

Serum immunoreactive trypsin (IRT) is used as a screening test for cystic fibrosis (CF) in neonates in many countries. Variations in IRT levels are observed in healthy and cystic neonates within the first few weeks of life. Fifteen percentage of CF neonates present with meconium ileus (MI). We hypothesised that there may be differences in serum IRT levels in cystic babies with simple and complicated MI. The aim of this study was to investigate the serum levels of IRT in neonates with CF presenting with MI. IRT levels were sequentially measured in neonates (n = 29) with CF with intestinal obstruction due to simple or complicated MI. These were compared to levels obtained from non-cystic neonates/controls admitted with a variety of other intra-abdominal pathologies (n = 49) IRT levels were significantly higher in the CF-MI group than the non-cystic controls (P < 0.001). There was no statistical difference in IRT levels between the simple or complicated MI groups. In the MI group there was no statistical difference between those who required operation, no difference between the pre- and post-operative IRT levels and no significant relationship between IRT levels and birth weight or gestation. Serum IRT levels are significantly elevated in neonates with CF and MI compared with non-cystic, non-MI neonates. The results of this observational study highlight that a single raised level of IRT in a neonate should prompt the analysis for CF regardless of any underlying surgical pathology.

Biomarkers↗

Interventional radiology cases from the royal hospital for sick children, glasgow: percutaneous metal biliary stent placement for palliation of intra-abdominal desmoplastic small round-cell tumour in a child.

Percutaneous placement of metal biliary stents for palliation of malignant processes affecting the porta hepatis is a well established technique in adults. We describe a case where the technique has been used successfully to treat obstructive jaundice in a ten-year-old boy suffering from intra-abdominal desmoplastic small round-cell tumour.

Abdomen↗

Congenital posterior urethral polyps in childhood. A case report.

We describe a 3-year-old boy who presented with dysuria and urinary retention. The diagnostic work-up (USS, MRI, urethrocystoscopy), suggested a polypoid lesion at the bladder base, originating from the verumontanum. Histology showed the lesion to be a fibroepithelial polyp. A rare cause of urinary retention in childhood must be considered in the differential diagnosis.

Child, Preschool↗

Congenital cystic mesoblastic nephroma.

With widespread use of antenatal ultrasound, an increasing number of urinary-tract lesions are being detected, and the clinician is called upon to make management decisions. Parenchymal lesions of the kidney pose a special challenge because of the associated risk of the occurrence of malignancy. A case of an antenatally-detected solid/cystic lesion of the kidney diagnosed as a congenital cystic mesoblastic nephroma following nephrectomy is presented and the issues involved in therapeutic decision-making are discussed.

Humans↗

Neonatal tumours: a single-centre experience.

Solid tumours are uncommon in the neonatal period. We present our experience of managing neonatal tumours in a tertiary reference centre to study the incidence, pathology and types, efficacy of treatment, and impact of antenatal diagnosis on the management in our practice in a retrospective study of case-notes and pathology reports. Eighty-three neonates with solid tumours were seen over a 45-year period (1955-1999); 62 (74%) presented at birth. Only 11 were diagnosed antenatally. Teratomas were the commonest type (n = 33, 40%) followed by neuroblastomas (NB) (14), renal (13), soft-tissue (10), hepatic (4), and miscellaneous tumours (2). Twenty-three (28%) were malignant, 50% of these being NBs. Surgery remains the mainstay of treatment. Chemotherapy has also become safer. Therapeutic complications were responsible for 50% of deaths before 1986; from 1986 onwards, there has been no therapy-related mortality. Only one-third of the recent cases were diagnosed antenatally. Counseling the family and in-utero transfer is the best option. In our limited series, there was no significant difference in management and outcome in the antenatally-diagnosed cases. The small numbers of neonatal tumours seen by individual centres underline the need for an international effort to optimise therapy and improve understanding of these tumours.

Female↗

Twins with oesophageal atresia and the CHARGE association.

Twins are rarely concordant for oesophageal atresia and tracheo-oesophageal fistula. Such a case is presented and their similar associated anomalies described. The CHARGE association is considered as a possible diagnosis and the aetiological implications considered.

Abnormalities, Multiple↗

Measurement of optic nerve sheath diameter by ultrasound: a means of detecting acute raised intracranial pressure in hydrocephalus.

AIM: To evaluate the utility of measuring the optic nerve sheath diameter in children with shunted hydrocephalus, suspected of having raised intracranial pressure. METHODS: 23 children with shunted hydrocephalus were examined, six had well controlled ICP, 17 however manifested symptoms suggestive of intracranial hypertension. A clinical history was taken from all patients and their parents or carers. The shunt valve was examined clinically, and signs of raised intracranial pressure were sought. Ultrasound examination was performed in both eyes to measure the optic nerve sheath diameters 3 mm behind the globe. These measurements were compared with control data obtained from 102 children who attended the radiology department for unrelated renal ultrasound examination. RESULTS: Control data suggested that the upper limit of normal for optic nerve sheath diameter is 4.5 mm (measured 3 mm behind the globe) in patients over 1 year of age, and 4.0 mm in children less than 1 year of age. Those patients with functioning ventriculoperitoneal shunts had a mean optic nerve sheath diameter of 2.9 (SD 0.5) mm; those with raised intracranial pressure had a mean optic nerve sheath diameter of 5.6 (0.6) mm (p<0.0001). These results confirm that optic nerve sheath diameters in excess of the control data are strongly suggestive of raised intracranial pressure. CONCLUSION: The evaluation of the optic nerve sheath diameter is a simple non-invasive procedure, which is a potentially useful tool in the assessment and monitoring of children with hydrocephalus suspected of having raised intracranial pressure.

Adolescent↗

Separation of renal fragments by a urinoma after renal trauma: percutaneous drainage accelerates healing.

BACKGROUND: Two boys suffered blunt abdominal trauma resulting in renal injury. In both cases the damaged kidney was fractured through its mid-portion, and the upper and lower fragments of the kidney became widely separated by a urinoma. MATERIALS AND METHODS: US-guided drainage of the urinoma resulted in immediate apposition of the renal fragments. The drains were left on free drainage by gravity for 1 week before removal. RESULTS: The urinomas did not reaccumulate and follow-up DMSA scans showed good residual function. CONCLUSION: We suggest that drainage of urinomas that separate renal fragments should be considered since this may accelerate healing and help preserve renal function.

Accidental Falls↗

Transorbital optic nerve sheath ultrasonography in normal children.

AIM: Early diagnosis of acute intracranial hypertension is essential to enable prompt, optimal treatment. The optic nerve sheath diameter (ONSD) is increased in raised ICP and there has been recent interest in the use of ultrasound to diagnose and indirectly monitor raised ICP by ONSD measurement. The advantages of the technique include its non-invasiveness, wide availability, portability, low cost and the absence of ionizing radiation. This prospective study was designed to establish the range of normal values for ONSD in infants and children up to 15 years of age. PATIENTS AND METHODS: One hundred and two children attending the hospital for other reasons were recruited to the study. Three measurements of the ONSD were taken for each eye, 3 mm behind the optic nerve head using a 7 MHz sector probe. RESULTS: The range for ONSD was 2.1-4.3 mm, mean 3.08 (SD 0.36). There were no significant differences on ONSD measurement between boys and girls (P = 0.59) or between right and left eyes (P=0.66). When the data were grouped and analysed, a correlation between increasing age and increasing ONSD was seen (r2=0.48), with the greatest increase occurring in the first 2 months of life. CONCLUSION: Using the technique described here, our results suggest that an ONSD of greater than 4 mm in infants less than 1 year, and 45 mm or greater in older children, should be regarded as abnormal.

Adolescent↗

Ectomesenchymoma: one or two tumors? Case report and review of the literature.

Ectomesenchymoma has not previously been reported in a patient with the cutaneous nevus syndrome. A case of perineal ectomesenchymoma is presented with unusual cytogenetic findings. The significance of these is discussed and the world literature reviewed. This is the first such case reported.

Combined Modality Therapy↗

Collagen-coated Vicryl mesh is not a suitable material for repair of diaphragmatic defects.

Encouraged by the results in abdominal wall defects, the authors used the collagen-coated Vicryl mesh (CCVM) in repair of diaphragmatic defects in two patients. In a patient with recurrent diaphragmatic hernia, CCVM was used to reinforce the anterior abdominal muscle flap. The hernia recurred after 8 months. In another patient, it was used to repair a large diaphragmatic defect. This patient had a recurrence of the hernia in 10 weeks. The results suggestthat CCVM is not a good material for repairing the diaphragmatic defect. However, it can be used to reinforce other types of repairs.

Female↗