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Biomedical subjects

V F Larcher

Publications and source records attributed to V F Larcher.

At least 19 recordsLinked to original sources
PubMed2002

Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T).

We report two unusual cases of resistance to thyroid hormone (RTH) in one family. The first case, a male infant, had clinical features of thyrotoxicosis in the neonatal period. In the fourth week of life weight gain was poor despite a daily intake of standard infant formula almost double the infant's estimated requirements. At this time serum free T4 (fT4) was 60.7 pmol/l (Normal range [NR] 11-25 pmol/l) and TSH was inappropriately normal at 1.8 mU/l (NR 0.3-4.0 mU/l). The infant responded clinically and biochemically to propylthiouracil (PTU) at a dose of 10 mg/kg/day. Following 27 days of treatment serum fT4 was 22.6 pmol/l and TSH had risen to 24.9 mU/l. As the infant was thriving treatment was discontinued. The infant, now aged 6 months old, remains clinically euthyroid and developmentally normal off treatment. The infant's mother, from whom he had inherited a mutation of the thyroid receptor beta (TRbeta) gene (M313T), presented earlier with secondary infertility and clinical features of thyrotoxicosis. Treatment with PTU restored her fertility and she spontaneously conceived. In the subsequent pregnancy, clinical and biochemical features of RTH improved, and she gave birth to a small but healthy female infant. In the next pregnancy, resulting in the birth of the affected male infant, clinical and biochemical features of RTH worsened, and high doses of PTU were required to maintain a clinically euthyroid state. To our knowledge, these are the first case reports of RTH associated with added features of a hypermetabolic state in infancy and secondary infertility.

Adult↗
PubMed2001

Overcoming barriers to hepatitis B immunisation by a dedicated hepatitis B immunisation service.

AIMS: To determine the effectiveness of a selective hospital based hepatitis B immunisation programme and the barriers to be overcome in obtaining a successful outcome. METHODS: Retrospective case note review of 265 infants born over a five year period to hepatitis B carrier mothers at a university affiliated hospital in Hackney, London. RESULTS: A total of 242 infants (91%) were fully vaccinated; 217 (82%) had serology; 31 required booster doses. Percentages failing to reach second, third vaccinations, and serology on schedule rose exponentially (7%, 18%, 33% respectively). Mobility was high (25%) and significantly affected outcome. A total of 95% Hackney resident babies were fully vaccinated compared with 78% non-residents. Uptake of routine immunisations was higher in Hackney residents than non-residents and greater in those who were eligible for hepatitis B vaccine. Name changes occurred in 35%. Translation requirements were high (85% for Turkish, Vietnamese, and Asian families). Requirements for specific postnatal counselling of mothers and hepatology referral fell significantly during the course of the study. Only seven of 22 babies born in 1995 in Tower Hamlets compared with 53 of 58 Hackney babies received a full vaccination course in non-hospital based primary care. CONCLUSION: In inner city areas with high prevalence of hepatitis B carriage, mobility, and diverse ethnicity, a dedicated centralised immunisation service can be highly effective, provided that adequate support services (translation, counselling, and parental referral) are available.

Africa↗
PubMed2000

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients with Aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition.

Abnormalities, Multiple↗
PubMed1997

Paediatrics at the cutting edge: do we need clinical ethics committees?

OBJECTIVES: To investigate the need for hospital clinical ethics committees by studying the frequency with which ethical dilemmas arose, the perceived adequacy of the process of their resolution, and the teaching and training of staff in medical ethics. DESIGN: Interviews with individuals and three multidisciplinary teams; questionnaire to randomly selected individuals. SETTING: Two major London children's hospitals. RESULTS: Ethical dilemmas arose frequently but were resolved in a relatively unstructured fashion. Ethical concerns included: the validity of consent for investigations and treatment; lack of children's involvement in consent; initiation of heroic or futile treatments; resource allocation. Staff expressed the need for a forum which would provide consultation on ethical issues, develop guidelines for good ethical practice, undertake teaching and training, and provide ethical reflection outside the acute clinical setting. CONCLUSION: Multidisciplinary, accountable and audited clinical ethics committees with predominantly advisory, practice development and educational roles could provide a valuable contribution to UK clinical practice and perhaps in other countries that have not developed hospital clinical ethics committees.

Child↗
PubMed1994

Extensive naevus comedonicus in a child with Alagille syndrome.

Naevus comedonicus is a rare condition, thought to be a hamartoma in which cells of the pilosebaceous unit fail to develop appropriately. Although it is usually an isolated phenomenon, it has been associated with other defects, including those of the skeletal, ocular and central nervous system. A girl with this condition is described who also had Alagille syndrome (arteriohepatic dysplasia), a previously unreported association.

Adolescent↗
PubMed1993

Mycobacterial infection in an inner city children's hospital.

Childhood tuberculosis is perceived by many as a disease of the past. Experience in a children's hospital serving a deprived population suggested that tuberculosis and other mycobacterial infections were not declining in clinical practice. Fifty three tuberculous and 11 atypical mycobacterial infections were identified between 1978 and 1992. There was no decline in tuberculosis and nine of the 11 atypical infections occurred in the last five years. Altogether 40% of cases of tuberculosis were in non-Asian children; 32% had arrived in the UK or visited family overseas in the previous year; and 38% had a history of tuberculosis contact, usually a close adult relative. Nationally, the previous decline in tuberculosis in all ages has reversed. In the local health districts in London's east end, childhood tuberculosis has also stopped declining and seems to be increasing. It is regrettable that BCG vaccination has been abolished by some districts in the UK, against current recommendations. Childhood tuberculosis is still common in the practice described here, including among children who do not fall into conventionally recognised high risk groups. Inner city dwellers and junior doctors are both highly mobile populations, adding to the risk that paediatricians, particularly those in training, may encounter tuberculosis with little or no previous experience of the condition.

Adolescent↗
PubMed1989

Enteropathy and renal involvement in an infant with evidence of widespread autoimmune disturbance.

An 8-month-old infant presented with a 1 month history of protracted diarrhea, vomiting, and weight loss. Small intestinal biopsy showed a flat mucosa and there was no clinical improvement with gluten, cow's milk protein, and disaccharidase-free diet. Serial testing for autoantibodies revealed persistent autoantibodies to gut epithelial cells and to renal brush borders; on two occasions, atypical liver-kidney microsomal antibodies were detected. Treatment with steroids produced clinical improvement but the patient finally succumbed with a combination of gut and renal dysfunction. The widespread nature of the antibodies, with clinical involvement of gut, liver, and kidney, suggest an underlying autoimmune mechanism for the pathogenesis of the condition. Serial autoantibody measurements may provide a means to monitor the disease progress and may be a guide to treatment.

Autoimmune Diseases↗
PubMed1988

The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.

We report a child with multiple malformations caused by trisomy for the distal part of the long arm of chromosome No 5. A neonatal diagnosis of Down's syndrome had previously been made on the basis of clinical examination and the detection of an additional chromosome not unlike No 21. A subsequent clinical re-evaluation, with the cooperation of the parents who permitted further studies, led to the confirmation of the true diagnosis. The mother was the carrier of a balanced translocation between chromosome No 5 and No 14. The child had severe growth and psychomotor retardation and characteristic features: microcephaly, antimongoloid slant, epicanthus, low set ears, down-turned mouth, and long upper lip. She was hypertonic and a congenital heart disease (atrial septal defect) was present. We have compared this case with others known to be trisomic for segment 5q31-qter.

Abnormalities, Multiple↗
PubMed1987

AIDS in an infant causing severe failure to thrive.

A nine-month-old female Jamaican infant presented with a history of severe failure to thrive, recurrent pneumonia and developmental delay. She was found to have hepatosplenomegaly, generalised lymphadenopathy and hypotonia. Investigations revealed polyclonal hypergammaglobulinaemia, cytomegalovirus in her urine, and patchy lung infiltrates on her chest radiographs. Three separate tests were positive for human immunodeficiency virus in both the infant and her mother, suggesting vertical transmission, and confirming AIDS as the cause of the severe failure to thrive.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Whole blood assay of theophylline concentrations using immunochromatographic stick at the bedside.

Blood was collected from 77 patients for estimation of theophylline concentration by whole blood assay using an immunochromatographic stick (Acculevel, Syva UK, Maidenhead, Berkshire). Results were validated by high performance liquid chromatography (HPLC). The stick method was rapid, reliable, required no technical expertise, and produced results equivalent to those obtained from assay from HPLC.

Adolescent↗
PubMed1985

Genetically determined low C4: a predisposing factor to autoimmune chronic active hepatitis.

Of 26 patients with autoimmune chronic active hepatitis (CAH) starting in childhood 18 (69%) had low C4 and 5 (19%) had low C3 serum levels. Impaired hepatic synthesis and immune-consumption were unlikely since transferrin levels were normal in all patients, albumin levels were persistently low in only 3, and only 3 had raised levels of activation fragment C3d. C4d was normal in all patients studied. In the families of 12 probands with low C4, 7 parents had low C4 and 2 had levels which were at the lower limit of normal. 5 of 10 siblings from 5 families had low C4. These results suggest that low C4 levels in CAH are genetically determined. C4 phenotyping in 20 patients and in 26 parents showed that 90% and 81%, respectively, had null allotypes at either the C4A or C4B locus compared with 59% in controls, indicating that defective expression of structural genes may contribute to the observed C4 deficiency.

Adolescent↗
PubMed1985

Spontaneous bacterial peritonitis in children with chronic liver disease: clinical features and etiologic factors.

We analyzed the clinical and bacteriologic features of 12 episodes of spontaneous bacterial peritonitis (SBP) in 11 children (four boys, median age 5.5 years) with chronic liver disease. All patients had cirrhosis and ascites; four had hypersplenism, and one was asplenic. Symptoms included increasing abdominal distention, pyrexia, abdominal pain, gastrointestinal disturbance, and encephalopathy. Nine had rebound tenderness on abdominal palpation, and 12 had reduced bowel sounds. The most frequent organisms isolated from culture of ascitic fluid were Streptococcus pneumoniae (nine). Klebsiella (two), and Haemophilus influenzae (one); blood cultures grew identical organisms in nine. Seven patients died despite intensive antibiotic therapy. In the 3 months prior to onset of SBP, defective yeast opsonization and reduced serum concentration of C4 were found in all nine children tested; eight had reduced concentration of C3. Functional deficiency of all complement components was present in four tested within 1 to 5 months of the onset. In contrast, only eight of 59 cirrhotic children without SBP had low C3, and eight had defective yeast opsonization, although 35 had low C4 values. Four of the patients with SBP and low C3 and C4 concentrations had normal concentrations at the time of diagnosis of liver disease 2 to 5 years previously. Opsonization of type III pneumococci was reduced in sera from three patients who subsequently developed pneumococcal peritonitis. The incidence of SBP in children with chronic liver disease is similar to that in adults, as are the clinical features. Our observations suggest that complement deficiency induced by chronic liver disease may be important in the pathogenesis of SBP.

Adolescent↗
PubMed1984

Antibodies to liver-specific lipoprotein in children with chronic liver disease due to "autoimmune" chronic active hepatitis, cystic fibrosis, and alpha 1-antitrypsin deficiency.

Antibodies to a liver-specific lipoprotein complex (LSP) were determined by radioimmunoassay in the sera of 65 children with possible chronic liver disease. Thirteen had "autoimmune" chronic active hepatitis (CAH), 21 alpha 1-antitrypsin deficiency PiZ (alpha 1-ATD), all having significant liver disease, while 10 of 31 children with cystic fibrosis (CF) had abnormal biochemical tests of liver function, six having cirrhosis. Sera from 12 (92%) of 13 untreated CAH patients contained detectable anti-LSP antibodies, the highest titres occurring in those with anti-liver/kidney microsomal or smooth muscle antibodies. Titre of anti-LSP antibodies correlated with piecemeal necrosis of periportal hepatocytes in liver biopsies, but not with standard biochemical tests of liver function or serum immunoglobulin concentrations. The incidence of LSP antibodies fell as liver damage improved with immunosuppressant therapy, being positive in 18 of 26 sera from children in whom the transaminases were still above normal, but positive in only two of 20 in whom transaminase values were within the normal range (chi 2 = 16, p less than 0.001). Sera from two of 31 patients (6%) with CF contained anti-LSP antibodies as did sera from six of 21 patients with alpha 1-ATD. Antibody concentrations were lower than in CAH, and in alpha 1-ATD the presence of anti-LSP could not be correlated with the presence or absence of piecemeal necrosis on liver biopsy. Our data suggest that autoimmune mechanisms involving antibody to hepatocyte membrane components have a role in the pathogenesis of chronic liver disease in autoimmune CAH in children as in adults.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Duration of chronic active hepatitis and the development of cirrhosis.

Chronic hepatitis implies that clinical and biochemical features of hepatitis have been present for at least 6 months; but irreversible liver damage may occur with subclinical disease suggesting that pathological features should also define chronicity. We examined 28 children with hepatitis B negative chronic active hepatitis to determine whether the severity of abnormal biochemical tests of liver function, raised serum immunoglobulin concentrations, and positive serum autoantibodies, which are characteristic features in immunosuppressant responsive disease, varied with the duration of symptoms. The pattern of abnormality in these patients was similar whether the disease had been present for less than three months, from three to 6 months, or for more than 6 months, and apart from lack of hyperbilirubinaemia was similar in patients presenting with complications of cirrhosis without previous symptoms of liver disease. Two children died of liver disease. The remainder showed a clinical, biochemical, and immunological response to prednisolone or azathioprine, or both. These drugs have now been withdrawn in 8 patients without relapse, and disease activity is completely suppressed in 13. Unfortunately, 15 survivors have definite cirrhosis and a further five have possible cirrhosis. Eight of 10 survivors with symptoms of more than 6 months duration before treatment have cirrhosis compared with two of 12 with symptoms of less than 6 months. It is suggested that consideration of this diagnosis at onset of symptoms and immediate immunosuppressant treatment after appropriate confirmatory investigations may reduce the incidence of cirrhosis in hepatitis B negative chronic active hepatitis in children.

Adolescent↗
PubMed1983

Wilson's disease: a diagnostic dilemma.

A 13 year old boy presented with headache, sore throat, myalgia, and fever and subsequently developed haemolytic anaemia and acute liver failure. Wilson's disease, a rare cause of acute liver failure, was diagnosed at necropsy. In such cases Wilson's disease must be diagnosed at an early stage for treatment to be effective. The most reliable indications are increased urinary and hepatic copper concentrations.

Acute Disease↗