Biomedical subjects
I Mushtaq
Publications and source records attributed to I Mushtaq.
Efficient short-term control of hypercortisolaemia by low-dose etomidate in severe paediatric Cushing's disease.
BACKGROUND: Paediatric Cushing's disease (CD) is rare, but is associated with considerable morbidity and requires effective treatment. Control of hypercortisolaemia is recommended prior to definitive therapy by transsphenoidal pituitary surgery with selective adenomectomy. We describe a 6.2-year-old male with severe hypercortisolaemia and life-threatening complications of Cushing's disease. Control of cortisol with metyrapone and ketoconazole was ineffective, and due to his deteriorating condition, the decision was taken to proceed to bilateral adrenalectomy. METHODS: Low-dose IV infusion of etomidate, with dose titration according to serum cortisol levels, was administered. RESULTS: Etomidate infusion (3.0 mg/h i.v.) decreased serum cortisol from 1,250 to 250 nmol/l within 24 h. Combined etomidate and hydrocortisone therapy was maintained to provide stable serum cortisol levels within the desired range for 12 days prior to successful bilateral adrenalectomy. CONCLUSION: In our experience, etomidate was effective and safe for short-term control of severe hypercortisolaemia in a severely ill child.
An unusual case of a prenatally detected large mullerian duct remnant.
Mullerian duct remnants presenting in childhood are often diagnosed incidentally and when symptomatic, typically present with recurrent infection and/or voiding disturbances. We present a rare unusual case of a male neonate who presented with a prenatally detected large pelvic cyst that turned out to be a giant prostatic utriculus.
Atypical mycobacterial disease in children: a personal series.
Atypical mycobacterial disease is common in children in Australia. Over 22 years, records were kept prospectively by the senior author. The diagnosis was confirmed in 118 patients, either by culture or by the combination of a positive skin test plus typical histology. There were 46 boys and 72 girls with a median age at diagnosis of 28 months. Most children (n = 56) presented with chronic lymphadenitis or abscess formation (n = 55). The duration of illness varied from 4 days to 18 months. The most common sites affected were the head and neck (n = 112), with the pre-auricular region and anterior end of the submandibular triangle being characteristic. Nine patients had multifocal disease. The aim of treatment is to excise as much of the infected tissue as possible: 47 children had node excision through a planned incision that was closed primarily, with only 4 needing a second operation; 42 had excision of a node through the base of the superficial part of a collar-stud abscess with 6 recurrences. However, of the 33 children who had only drainage/curettage of the cavity or node 10 had recurrences requiring re-operation. Only 1 patient required a third operation. Morbidity was extremely low, with 1 staphylococcal wound infection. No child suffered permanent paresis of the mandibular division of the facial nerve. It is our belief that surgical excision of both the macroscopically affected and adjacent macroscopically unaffected nodes is necessary to achieve cure in the majority of cases.
Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry.
OBJECTIVE: To assess the feasibility of screening for cholestatic hepatobiliary disease and extrahepatic biliary atresia by using tandem mass spectrometry to measure conjugated bile acids in dried blood spots obtained from newborn infants at 7-10 days of age for the Guthrie test. SETTING: Three tertiary referral clinics and regional neonatal screening laboratories. DESIGN: Unused blood spots from the Guthrie test were retrieved for infants presenting with cholestatic hepatobiliary disease and from the two cards stored on either side of each card from an index child. Concentrations of conjugated bile acids measured by tandem mass spectrometry in the two groups were compared. MAIN OUTCOME MEASURES: Concentrations of glycodihydroxycholanoates, glycotrihydroxycholanoates, taurodihydroxycholanoates, and taurotrihydroxycholanoates. Receiver operator curves were plotted to determine which parameter (or combination of parameters) would best predict the cases of cholestatic hepatobiliary disease and extrahepatic biliary atresia. The sensitivity and specificity at a selection of cut off values for each bile acid species and for total bile acid concentrations for the detection of the two conditions were calculated. RESULTS: 218 children with cholestatic hepatobiliary disease were eligible for inclusion in the study. Two children without a final diagnosis and five who presented at <14 days of age were excluded. Usable blood spots were obtained from 177 index children and 708 comparison children. Mean concentrations of all four bile acid species were significantly raised in children with cholestatic hepatobiliary disease and extrahepatic biliary atresia compared with the unaffected children (P<0.0001). Of 177 children with cholestatic hepatobiliary disease, 104 (59%) had a total bile acid concentration >33 micromol/l (97.5th centile value for comparison group). Of the 61 with extrahepatic biliary atresia, 47 (77%) had total bile acid concentrations >33 micromol/l. Taurotrihydroxycholanoate and total bile acid concentrations were the best predictors of both conditions. For all cholestatic hepatobiliary disease, a cut off level of total bile acid concentration of 30 micromol/l gave a sensitivity of 62% and a specificity of 96%, while the corresponding values for extrahepatic biliary atresia were 79% and 96%. CONCLUSION: Most children who present with extrahepatic biliary atresia and other forms of cholestatic hepatobiliary disease have significantly raised concentrations of conjugated bile acids as measured by tandem mass spectrometry at the time when samples are taken for the Guthrie test. Unfortunately the separation between the concentrations in these infants and those in the general population is not sufficient to make mass screening for cholestatic hepatobiliary disease a feasible option with this method alone.
Meconium ileus secondary to cystic fibrosis. The East London experience.
Meconium ileus (MI) affects 15% of neonates with cystic fibrosis (CF). The authors reviewed the management and outcome of 51 neonates presenting to a single institution between 1976 and 1995 with MI secondary to CF. Clinical presentation included abdominal distension (96%), bilious vomiting (49%), and delayed passage of meconium (36%). A family history of CF was present in 4 cases (8%). Twenty-three neonates presented with MI and evidence of volvulus, atresia, or perforation (complicated MI). Of these, 16 underwent stoma formation, 1 appendicectomy, and 6 resection with primary anastomosis. Twenty-eight neonates presented with uncomplicated MI. Of these, 11 were managed non-operatively by Gastrografin enema (10) or enteral N-acetylcysteine (1). The remainder required stoma formation (15) or bowel resection with primary anastomosis (2). Early postoperative complications occurred in 2 neonates (4%). In this hospital the 1-year survival for this condition has increased from 49% (1953-1970) to 98% (1976-1995) irrespective of the surgical procedure performed or the presence of volvulus, atresia, or perforation. In our experience, bowel resection with primary anastomosis is as safe as stoma formation and is associated with a reduced length of initial hospital stay.
Surface umbilical pyloromyotomy.
BACKGROUND: Despite much initial enthusiasm, umbilical pyloromyotomy has failed to achieve widespread popularity. This mostly relates to difficulty with delivering the pyloric tumour through the relatively small incision. METHOD: A new technique for umbilical pyloromyotomy is described in which a circumumbilical skin incision with a right lateral extension is combined with transverse division of the linea alba and part of the right rectus muscle. The pyloric tumour is easily delivered to the skin surface through this generous minilaparotomy. After muscle closure the lateral skin extension is swung medially as described and incorporated within the umbilical scar. RESULTS: We report our experience of 30 cases in which this technique was successfully employed. The pyloromyotomy was done on the surface in all cases and the resulting scar was barely visible in the folds of the umbilicus.
A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry.
Bile acid concentrations are elevated in the blood of neonates with cholestatic hepatobiliary disorders providing a possible means of screening for treatable conditions including biliary atresia. A method is described for the determination of concentrations of conjugated bile acids in dried blood spots using electrospray ionization mass spectrometry. Bile acids were eluted from the blood spots using methanol containing, as internal standards, the taurine and glycine conjugates of D4-chenodeoxycholic acid and D4-cholic acid. The samples were then reconstituted in acetonitrile/water and injected by autosampler into the electrospray source operating in negative ion mode. Optimal conditions were determined for both single quadrupole and tandem mass spectrometry analysis. Blood spot bile acid profiles were studied in two groups of infants (< 1 y), a cholestatic group (conjugated bilirubin > 25 mumol/L; n = 49), and a control group (n = 96). The best discrimination between the two groups was provided by measurements of taurodihydroxycholanoates (normal < 5 mumol/L; cholestatic group 18-94 mumol/L) and glycodihydroxycholanoates (normal < 5 mumol/L; cholestatic group 11-66 mumol/L). The method can also be adapted to detect unusual bile acids which are diagnostic of inborn errors of bile acid synthesis and peroxisomal disorders. The method is fast, reliable, reproducible, and relatively cheap; however, much more work is required to determine whether it can be used for mass screening for cholestasis. It will be necessary to show that measurement of bile acid concentrations in blood spots obtained at 7-10 d can be used to detect infants who currently present with jaundice, pale stools, and dark urine during the first 6 mo of life.
Pneumatic intussusception reduction via a colostomy: case report.
Intussusception is uncommon in infants with a colostomy. The authors present the first documented case of intussusception in an infant with a colostomy in which pneumatic reduction was achieved via the stomal opening. The inflated balloon of a Foley catheter was plugged against the stoma at skin level and a tight seal was obtained. Successful reduction was achieved without any adverse effects to the patient.
Associated urologic anomalies in low imperforate anus are capable of causing significant morbidity: a 15-year experience.
OBJECTIVES: To determine the incidence and morbidity caused by urologic anomalies in patients with low imperforate anus. METHODS: The case records and imaging studies of 95 patients who underwent surgery for low imperforate anus over a 15-year period were retrospectively reviewed. Follow-up ranged from 2 to 18 years (mean 5.4). RESULTS: Genitourinary abnormalities were seen in 29 patients (31%), whereas 10 (11%) had lumbosacral abnormalities. A micturating cystourethrogram was performed in 48 patients, 18 of whom were shown to have vesicoureteric reflux and 2 of whom required surgical correction. Three additional patients required bilateral ureteric reimplantation: 2 had megaureters whereas 1 had bilateral ectopic ureters. Four patients had evidence of chronic renal failure; these included 1 patient with reflux nephropathy, 2 with bilateral dysplastic kidneys, and 1 with neurogenic bladder. The patient with reflux nephropathy underwent renal transplantation at the age of 18 years. Two patients had proximal hypospadias and 4 had undescended testes. A neurogenic bladder was documented in 5 children, 4 of whom had lumbosacral abnormalities. One of these had a spinal lipoma and required excision of the lipoma and untethering of the spinal cord. CONCLUSIONS: We conclude that 30% of patients with low imperforate anus would have associated urologic anomalies, several of which are capable of causing significant morbidity. Thus, all patients with imperforate anus, whether high or low, need to be screened for associated urologic anomalies.
Childhood renal tumours with intravascular extension.
OBJECTIVE: To assess whether pre-operative chemotherapy reduces operative morbidity in children with intravascular extension of renal tumours. PATIENTS AND METHODS: Thirty children with intravascular extension of their renal tumour, treated in 10 different centres in the UK, were reviewed retrospectively. RESULTS: Twenty-nine patients had nephroblastoma and one child had clear cell sarcoma (favourable histology in 23, unfavourable histology in six). Patients were classified into stage II (17 patients), stage III (three patients) and stage IV (10 patients). Ultrasonography had been performed in 29 patients and had correctly diagnosed intravascular extension in 11 (40%); computed tomography (CT) was accurate in 93% of patients. A pre-operative diagnosis was made accurately in 24 patients, with caval extension in 18 and atrial extension in six. Nine patients underwent primary surgery, whilst 21 had pre-operative chemotherapy followed by delayed nephrectomy. In the latter group, the intravascular thrombus diminished in 16 patients. Five patients died, one from tumour rupture and four from extensive or progressive tumour disease; the overall 2-year survival was 83%. Unfavourable histology did not adversely affect survival, and patients having pre-operative chemotherapy appeared to have a better outcome. CONCLUSION: CT remains the best imaging modality to assess intravascular tumour extension. Pre-operative chemotherapy is recommended for patients with intra-caval extension of tumour. Those with intra-atrial extension or with hepatic vein obstruction (Budd-Chiari syndrome) may require a cardiopulmonary bypass and primary surgery.
Laparoscopic cholecystectomy in surgical training.
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Controlled-tension suture-tying forceps.
Suture-tying forceps have been designed to enable surgeons to tie consecutive sutures to the same tension to create an evenly compressed wound. The tensioning effect of the forceps was tested by tying a suture to the end of a cantilever beam strain-gauge device. Three sutures were used: 10/0 nylon, 8/0 polyglactin (Vicryl) and 8/0 virgin silk. The tests were repeated, coating the tips with citrated blood, sodium hyaluronate and saline. Adjustment of the forceps altered the suture tension in 0.015-N steps. Sterilization of the forceps by ethylene oxide or by an autoclave caused no obvious regression in the forceps performance. When the suture and surface lubricant remain constant, there is a linear relationship between forceps setting and the tension induced in the suture.
Risk of germ cell malignancy in children with XY intersex versus isolated cryptorchidism by immunohistochemistry.
The risk of subsequent development of testicular germ cell neoplasia is related to presence of underlying developmental defects such as cryptorchidism, in which the risk is around 0.5%, and XY intersex with abdominal testes, in which the risk may be as high as 20-25%. We examined the hypothesis that the increased risk of germ cell malignancy in intersex testes with Y chromosome was a direct consequence of an abnormal increase in number of PLAP/CD117+ immature germ cells into postnatal life. Archival cases of uncomplicated cryptorchidism (CO) and XY intersex (INT) were identified and anonymized, and a subgroup of aged-matched cases had sections immunostained with placental alkaline phosphatase (PLAP) and CD117. From a total of 89 intersex and 105 cryptorchid cases identified, a power calculation to detect a 20% difference in expression between groups (alpha = 0.05, power = 80%) determined that 18 intersex and 36 cryptorchid cases were required. Thus, 58 cases were examined, median age 3 (range birth-11) years, including 39 CO and 19 INT. The prevalence of any PLAP+ germ cells was 2/39 (5.1%) versus 3/19 (15.7%), respectively. (Z = 1.4, p = 0.17). In contrast, 94% of cases showed presence of any CD117+ germ cells, but the frequency of CD117+ cells was not significantly different between groups (t = 0.56, p = 0.58). CD117 and PLAP identify different populations of germ cells in pediatric testes. The extent of increased risk of malignancy in XY INT is not simply related to increased numbers of immature PLAP+/CD117+ germ cells present; additional factors play a pathogenic role.
Histopathological features of testicular regression syndrome: relation to patient age and implications for management.
Testicular regression syndrome (TRS) represents a congenital condition in which no normal testicular tissue can be identified following exploration for a clinically impalpable testis. A spectrum of pathological findings may be present but there is little literature systematically examining these features. We searched a pediatric histopathology database to identify cases of TRS, and the histopathological findings were reviewed and pooled with those of all previously published smaller series. A total of 117 cases were identified during the period (1989-2004), median age 2 (range birth-12) years. In 52 (44%) a nodule was identified macroscopically, median maximum diameter 0.5 (range 0.1-2.0) cm. Microscopic hemosiderin-laden macrophages were present in 85 (73%), dystrophic calcification in 52 (44%), residual testicular tubules in 12 (10%), vas deferens in 71 (61%), and epididymal tissue in 39 (33%). The prevalence of hemosiderin laden macrophages and dystrophic calcification were significantly greater in cases < or =3 years (84% versus 64% and 55% versus 32%, respectively). But there was no significant difference in the frequency of other findings between the younger and older age groups; in particular, the presence of residual testicular tubules was similar (7% versus 13%, respectively). Furthermore, there was no significant correlation between identification of a macroscopically distinct nodule and presence of residual tubular structures, tubules being identified in 6 of the 65 cases in which no clearly identifiable nodule was seen macroscopically. The presence of hemosiderin-laden macrophages and foci of dystrophic calcification showed a positive association. TRS is associated with specific histopathological features, the findings being consistent with changes secondary to intrauterine testicular torsion. Residual testicular tubules are found in 10% of cases regardless of the presence or absence of a macroscopically identifiable nodule.