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Biomedical subjects

Shailesh Patel

Publications and source records attributed to Shailesh Patel.

9 recordsLinked to original sources

A simple adjunct for safer change of PEG.

Percutaneous endoscopic gastrostomy (PEG) is a procedure commonly performed in children who require long-term enteral nutritional support. Although simple, PEG insertion carries the risk of severe and potentially life-threatening complications. Attention to detail is paramount in preventing such complications. Removal is also associated with complications. We describe a simple and inexpensive technique, just requiring a loop nylon suture, which is a useful adjunct to standard endoscopic removal or change of PEG. This modified technique is particularly useful in the untoward event of gastric separation from the anterior abdominal wall during gastrostomy tract dilatation or insertion of the new button device.

Endoscopy, Gastrointestinal↗

Outcome of antenatally diagnosed sacrococcygeal teratomas: single-center experience (1993-2004).

AIMS: Sacrococcygeal teratomas (SCTs) are the commonest neonatal tumors with an incidence of approximately 1:30,000. There are few large single-center series and even fewer describing both their antenatal and postnatal course. We report the outcome of all fetuses investigated at a tertiary fetal medicine center with this diagnosis. METHOD: Demographic details were obtained from a prospectively maintained database. Patient records were examined for additional data including antenatal and postnatal interventions. Data were described as median (range). RESULTS: Forty-one SCTs were diagnosed antenatally during the period 1993 to 2004. Twelve were excluded from subsequent analysis (single antenatal visit or attending for second opinion [n = 6] and termination of pregnancy [n = 6]). Twelve underwent fetal intervention (laser vessel ablation [n = 4], alcohol sclerosis [n = 3], cyst drainage [n = 2], amniodrainage [n = 2], vesicoamniotic shunt [n = 1]) for fetal hydrops and polyhydramnios to aid in delivery and to prevent obstructive uropathy developing in the fetus. Of these, 3 died in utero and 9 survived to be born (median gestational age, 33 weeks [27-37 weeks]). A further 3 died in the neonatal period. There are 6 long-term survivors (50%) from this group. Seventeen infants, without intervention, were born at median gestational age 38 weeks (26-40 weeks). One infant with severe cardiac anomalies died on the day of birth. All surviving infants had definitive excisional surgery at a median of 2 days (1-16 days). Current median follow-up of survivors is 39 months (8-86 months). There have been no recurrences. One child has mild constipation, and 3 are awaiting cosmetic revision of their scars. CONCLUSIONS: The overall survival of antenatally diagnosed SCT is approximately 77%, with the development of hydrops and others requiring in utero intervention carrying a poor prognosis. Otherwise, the outcome after surgical excision is excellent.

Adult↗

Current outcome of antenatally diagnosed exomphalos: an 11 year review.

PURPOSE: The aim of this study was to determine the outcome of antenatally diagnosed exomphalos. METHODS: The database of a tertiary referral Fetal Medicine Centre was searched for all cases of antenatally diagnosed exomphalos between January 1991 and December 2002. Patients, general practitioners, and hospitals were contacted for outcome details. RESULTS: In total, 445 cases of exomphalos were identified. In 250 (56%) cases, the fetal karyotype was abnormal (group A), in 135 (30%) cases, the karyotype was normal (group B), and in 60 (14%) cases, karyotyping was declined (group C). In group A, there were 248 (99%) terminations of pregnancy (TOP) or fetal deaths and 2 live births. In group B, 74 (54%) fetuses had other structural anomalies; 82 (61%) pregnancies resulted in TOP or fetal death, 42 (31%) in live births, and 11 (8%) were lost to follow-up. In group C, 38 (63%) fetuses had other structural anomalies; 41 (69%) pregnancies resulted in TOP or fetal death, 11 (18%) in live births, and 8 (13%) were lost to follow-up. Of the 55 live births, 11 died preoperatively and 44 had surgery. There were no postoperative deaths. CONCLUSIONS: Less than 10% of the antenatal diagnostic workload reached operative repair. In our unit, these babies are a highly selected group, which is a factor in the high postoperative survival.

Abnormalities, Multiple↗

Minimally invasive management of bile leaks after blunt liver trauma in children.

BACKGROUND: Management of bile leaks after blunt abdominal trauma remains controversial. Conventionally, open surgery has been considered necessary, but new modalities of treatment, including endoscopic biliary stenting and laparoscopy, offer a minimally invasive alternative. MATERIALS AND METHODS: A retrospective review of all cases of blunt liver trauma in children treated at our institution between May 2002 and October 2004 was performed looking for possible biliary injury. RESULTS: Five children (3 boys), median age 13 years (range, 10-15 years), were referred to our institution at a median time of 4 days (1-15 days) after the initial trauma. Mechanism of injury was motor vehicle accident (n = 3), fall from a motorbike/Quad bike (n = 2), and a scooter handlebar injury (n = 1). Two, who were hemodynamically unstable, required laparotomy within 24 hours, although their subsequent management was minimally invasive. Endoscopic retrograde cholangiopancreatography, performed at a median time of 15 days (2-28 days), demonstrated an intrahepatic biliary leak in all 5 patients. Biliary stenting was performed in each case, with 2 also having a sphincterotomy. One subsequently developed a bile duct stricture that was managed by endoscopic dilatation. Four required additional percutaneous external drainage of intraabdominal collections. Two underwent laparoscopy to facilitate peritoneal lavage and rule out bowel injuries. No child required open surgery to treat the bile leak. Median hospital stay was 43 days (range, 15-58 days). CONCLUSIONS: A minimally invasive, multidisciplinary approach to traumatic bile leaks, as an alternative to open surgery, is practical and safe. It requires flexibility, particularly if the diagnosis has been delayed, and may still involve a prolonged hospital stay.

Abdominal Injuries↗

Absence of the ductus venosus.

Absence of the ductus venosus is a rare vascular anomaly, but clinicians should be aware that it can be diagnosed antenatally and the prognosis is dependent on the type of associated malformation of the fetal vascular system. Antenatal detection of a single umbilical artery and unexplained cardiomegaly should prompt detailed examination of the umbilical and portal veins. Absent ductus venosus is associated with three main patterns of abnormal venous circulation, the worst prognosis being seen when the umbilical vein bypasses the liver and connects to the right atrium. Fetuses with absence of the ductus venosus are at risk of other congenital anomalies including facial clefts, hemivertebrae, cardiac, genitourinary, gastrointestinal anomalies; affected infants also have a poorer prognosis. In conclusion, fetuses with features suggestive of absence of ductus venosus require referral to a tertiary perinatal center.

Esophageal Atresia↗

Definitive surgical management of antenatally diagnosed exomphalos.

BACKGROUND/PURPOSE: The management of exomphalos is controversial with many centers in the United Kingdom and elsewhere advocating a conservative nonsurgical approach for the larger examples. Nevertheless, this approach is not without problems or complication. The aim of the study was to ascertain the outcome of all infants with an antenatally diagnosed exomphalos treated recently at our institution using a policy of aggressive abdominal wall closure. METHODS: This is a retrospective review of all infants with exomphalos treated from January 1995 to September 2002. RESULTS: There were 35 infants, all of whom underwent surgery. These were separated into 3 groups: group A (all exomphalos minor) underwent primary closure (n = 11), group B (exomphalos major) underwent primary closure (n = 13), and group C (exomphalos major) underwent staged closure involving a silo (n = 11). Infants in group C had a lower birth weight (P = .05) and were less mature (P = .06). They required longer periods of ventilation (P < .001), a longer hospital stay (P = .001), and a longer period to achieve full enteral feeds (P < .001). Overall survival was 34 (97%) of 35 infants. One premature infant who was born with a ruptured exomphalos sac (birth weight, 862 g) died of nonsurgical complications (sepsis and respiratory failure) early after the creation of a silo. CONCLUSIONS: An aggressive surgical approach in infants with exomphalos is a safe option resulting in effective abdominal wall closure. This requires a skilled multidisciplinary approach and possibly greater resources than other options.

Abdominal Wall↗

Genetic defenses against noncholesterol sterols.

PURPOSE OF REVIEW This review discusses recent progress in the role of ATP-binding cassette proteins ABCG5 and G8 in dietary sterol absorption, excretion and pathogenesis of cardiovascular disease. RECENT FINDINGS Identification of the genetic defect(s) underlying sitosterolemia has led to a renewed interest in the mechanisms of sterol absorption and biliary excretion. Mutations in ABCG5 (encoding sterolin-1) or ABCG8 (encoding sterolin-2) cause this disease. These proteins are thought to function by preventing dietary noncholesterol sterols from being retained by the body and for cholesterol excretion into bile. SUMMARY Despite improvements in treatments for hypercholesterolemia with cholesterol lowering agents, cardiovascular disease still remains highly prevalent. This has prompted many to consider that molecules other than cholesterol may be better biomarkers for this disease and targeting these more directly may allow us to develop more effective therapies. Ideally, if such a biomarker were also the bioactive molecule that is key to initiating/propagating the atherosclerosis pathogenic pathway, this would allow us to develop an optimal predictor and monitor of the disease process. One source of such molecules could come from our diet, with potential candidates such as noncholesterol sterols, oxysterols, oxidized sterols or some as yet unidentified dietary bioactive molecule. Nature has evolved a protective mechanism by which such molecules are kept out of the body, thereby reducing the negative effects of these compounds. The newly identified sterolin proteins involved in the absorption and excretion of dietary sterols may fit this bill. If so, we would speculate that a better biomarker may be lurking within their substrate specificities.

ATP-Binding Cassette Transporters↗

Sitosterolemia.

Sitosterolemia was first described 28 years ago in two sisters. They had tendonxanthomas, normal plasma cholesterol levels, and elevated plant sterol levels. The high plant sterol levels were shown to be due to the increased absorption and delayed removal of plant sterols from the body. The increased absorption of plant sterols does not affect cholesterol absorption in these patients. However, cholesterol biosynthesis pathway is downregulated and turnover rates are reduced. Bile acid binding resins and ileal bypass surgery are effective treatments for sitosterolemic patients, whereas statins are ineffective. Sitosterolemia is inherited as a recessive trait. Recent studies have shown that mutations in ABCG5 and ABCG8 genes contribute to sitosterolemia. Most likely, ABCG5 and ABCG8 proteins function as obligate heterodimers and play a role in the absorption of plant sterol or control their rate of absorption.

ATP Binding Cassette Transporter, Subfamily G, Mem↗