Dealing with aggressive patients and avoiding overinvolvement.
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Adaptation, Psychological↗
Biomedical subjects
N M Smith
Publications and source records attributed to N M Smith.
Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.
We present a family with three affected males in two generations with congenital neurogenic chronic idiopathic intestinal pseudo-obstruction (CIIP), patent ductus arteriosus, and large platelet thrombocytopenia apparently segregating as an X linked recessive disorder. The pattern of segregation of DNA markers within the family is consistent with linkage to the previously described neurogenic CIIP (CIIPX) locus at Xq28. This combination may represent a new contiguous gene disorder and appears to have a good prognosis with supportive therapy.
Abnormalities, Multiple↗
Inversion (14)(q11q32) in a patient with childhood T-cell acute lymphoblastic leukemia.
We report a rare example of inversion (14)(q11q32) in childhood T-ALL and its further involvement in a subsequent translocation. We discuss the possible clinical significance of inv(14) in childhood T-ALL.
Child↗
Ante-natal testicular torsion: only one cause of the testicular regression syndrome?
It has been suggested that the most likely cause of the Testicular Regression Syndrome (TRS) is ante-natal torsion of the testis. As testicular torsion is twice as common on the left this theory cannot explain the incidence of right sided or bilateral cases. From a 5-year retrospective surgical and pathological review, we confirmed that the left testis was the most commonly affected, that boys with TRS tended to be delivered closer to term, and that frequently both testes were present at birth, but one or both subsequently vanished. We also found that direct trauma can produce histological findings indistinguishable from TRS. Close to term, fetal testes are liable to be intrascrotal and therefore susceptible to direct trauma. As the left testis descends into the scrotum at an earlier stage than the right, it is therefore at greater risk of injury. Since the findings of TRS can be produced by direct trauma, we suggest that intra-partum trauma may predispose to the TRS.
Child, Preschool↗
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.
Arm↗
Synthetic oligonucleotide cocktails as probes for detection of human parvovirus B19.
A cocktail of 10 oligonucleotides selected at intervals along the length of the genome of human parvovirus B19 was labelled enzymically with digoxigenin and chemically with either digoxigenin (DIG) or dinitrophenyl (DNP). Chemical labelling was easier and more practical for the production of large quantities of probe. Pools labelled with either digoxigenin or DNP could detect 10 fg of B19 DNA in a dot blot reaction using an alkaline phosphatase antibody conjugate and colorimetric detection. Formalin fixed tissue from 11 consecutive cases of fetal hydrops were examined by in situ hybridisation (ISH). Both probe cocktails detected human parvovirus B19 DNA in 3 cases, with positive cells in all tissues examined and with equal sensitivity. The DNP pool is significantly cheaper and simpler to produce and could provide an inexpensive reagent suitable for diagnostic detection of viral nucleic acid in histopathological material.
Base Sequence↗
Extrarenal Wilms' tumour presenting with intraperitoneal haemorrhage.
Extrarenal Wilms' tumours are very rare and have usually been reported as isolated cases. Presentation occurs with a painless abdominal mass. This case report is the first presentation of such a tumour with intraperitoneal haemorrhage. The investigation and surgical management are discussed and the need for urgent surgical assessment reinforced.
Child, Preschool↗
A disease resistance gene in Arabidopsis with specificity for two different pathogen avirulence genes.
The RPS3 and RPM1 disease resistance loci of Arabidopsis confer resistance to Pseudomonas syringae strains that carry the avirulence genes avrB and avrRpm1, respectively. We have previously shown that RPS3 and RPM1 are closely linked genetically. Here, we show that RPS3 and RPM1 are in fact the same gene. We screened a mutagenized Arabidopsis population with a P. syringae strain carrying avrB and found 12 susceptible mutants. All 12 mutants were also susceptible to an isogenic strain carrying avrRpm1, indicating a loss of both RPS3 and RPM1 functions. No mutants were recovered that lost only RPS3 function. Genetic analysis of four independent mutants revealed that the lesions were in RPS3. Thus, a single gene in Arabidopsis confers resistance that is specific to two distinct pathogen avirulence genes--a gene-for-genes interaction. This observation suggests that the RPS3/RPM1 gene product can bind multiple pathogen ligands, or alternatively, that it does not function as a receptor.
Arabidopsis↗
Acyclovir resistant varicella zoster and HIV infection.
A child infected with HIV who developed chronic varicella zoster virus infection resistant to acyclovir is presented. The clinical course of the infection, treatment, virological investigations, and relationship of the infection to the child's immunodeficient state are discussed.
AIDS-Related Opportunistic Infections↗
Oral teratoma (epignathus) with intracranial extension: a report of two cases.
Epignathi are unusual congenital tumours presenting as oropharyngeal masses, often resulting in rapid asphyxia following birth. Occasionally, intracranial extension of the tumour is present, and two such cases are described. The presence of this complication, diagnosable by ultrasound examination, indicates that aggressive surgical treatment is inappropriate.
Abortion, Therapeutic↗
Parachute-like sinus venosus remnant: echocardiographic and pathological appearance.
A female infant with multiple congenital abnormalities and a right atrial "mass" on echocardiography is reported. Her general condition at birth was poor, and the chest x-ray showed cardiomegaly. Echocardiography demonstrated the usual atrial arrangement and concordant atrioventricular and ventriculoarterial connections with a mobile right atrial mass. Death occurred at 3 days of age and subsequent postmortem examination revealed a hollow, tube-like sinus venosus remnant mobile between right atrium and ventricle with numerous other abnormalities of the heart, including left heart hypoplasia and tubular hypoplasia of the aortic arch. Filling of the sinus venosus remnant with blood had resulted in an echocardiographic appearance suggestive of a right atrial tumor.
Asphyxia Neonatorum↗
Identification of a disease resistance locus in Arabidopsis that is functionally homologous to the RPG1 locus of soybean.
A new disease resistance locus in Arabidopsis, RPS3, was identified using a previously cloned avirulence gene from a non-Arabidopsis pathogen. The avrB avirulence gene from the soybean pathogen Pseudomonas syringae pv. glycinea was transferred into a P. syringae pv. tomato strain that is virulent on Arabidopsis, and conversion to avirulence was assayed on Arabidopsis plants. The avrB gene had avirulence activity on most, but not all, Arabidopsis ecotypes. Of 53 ecotypes examined, 45 were resistant to a P. syringae pv. tomato strain carrying avrB, and eight were susceptible. The inheritance of this resistance was examined using crosses between the resistant ecotype Col-0 and the susceptible ecotype Bla-2. In F2 plants from this cross, the ratio of resistant:susceptible plants was approximately 3:1, indicating that resistance to P. syringae expressing avrB is determined by a single dominant locus in ecotype Col-0, which we have designated RPS3. Using RFLP analysis, RPS3 was mapped to chromosome 3, adjacent to markers M583 and G4523, and < or = 1 cM from another disease resistance locus, RPM1. In soybean, resistance to P. syringae strains that carry avrB is controlled by the locus RPG1. Thus, RPG1 and RPS3 both confer avrB-specific disease resistance, suggesting that these genes may be homologs.
Arabidopsis↗
The effect of exercise and heart rate on fibrinolytic activity.
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Atrial Function↗
Gangliogliomas in childhood.
Ganglioglioma is a tumour of the central nervous system composed of an admixture of dysplastic nerve cells resembling pleomorphic ganglion cells, and glial elements, which may be astrocytic and/or oligodendroglial in appearance. A series of 12 patients aged between 9 months and 15 years 9 months, all of whom had suffered epilepsy refractory to medical treatment for up to 8 years, is presented. Computed tomographic and magnetic resonance scans were of prime use in localisation of the tumours. Calcification was noted preoperatively in 4 of 12 cases. The majority of patients obtained at least partial relief from symptoms after complete or partial resection. Histologically, 11 of the tumours included grade 1 astrocytic elements and the remaining one exhibited grade 2 areas. The diagnosis of ganglioglioma should be suspected in a child with refractory, long-standing epilepsy. Prognosis of these tumours is determined by the astrocytic component; if this is of low grade, surgical excision may result in marked symptomatic improvement or cure.
Adolescent↗
The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.
The OEIS complex comprises a combination of defects including omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. It may represent the most severe manifestation of a spectrum of birth defects, the exstrophy-epispadias sequence. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and is of unknown cause. The purpose of the current report is to document the occurrence of OEIS in sibs from separate pregnancies and suggest that some cases may have a genetic basis.
Abnormalities, Multiple↗
The spectrum of presentation at autopsy of myocarditis in infancy and childhood.
To characterize the clinicopathological presentation of patients with myocarditis coming to autopsy in childhood, 32 cases of histologically-proven myocarditis were obtained from the files of the Adelaide Children's Hospital. In 16 of the cases (Group A), myocarditis was the only significant finding and death was ascribed to this condition. In the remaining 16 (Group B) myocarditis was found in association with other severe disease processes. Clinical histories of the 2 groups showed sudden death to be a feature in 5 out of 16 cases in Group A, 3 of whom had no prodromal symptoms. Five patients in Group B also suffered sudden death, but this was associated with a variety of causes, including bronchopneumonia, and asphyxia. These cases demonstrate the variability in clinicopathological presentation of myocarditis in infancy and childhood and suggest that myocarditis should always be considered a possible diagnosis at autopsy in the pediatric age group, even in the presence of coincident lethal disease.
Adolescent↗
Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).
We report the findings in a fetus terminated because of multiple abnormalities diagnosed on ultrasound, including asymmetry of the limbs, a hypoplastic diaphragm, unilateral duplex kidney with a double ureter, unilateral cystic kidney, and congenital heart disease including total pulmonary atresia. Cytogenetic studies showed an unbalanced translocation of the long arm of the X chromosome to chromosome 21, resulting in a 46,XY,dic t(X;21)(p11.1;p11.1) karyotype. The cytogenetics were confirmed by non-isotopic in situ hybridisation using probes specific to pericentric alphoid repeats. Parental chromosomes were normal indicating this to be a de novo translocation. It is suggested that the inactivation of the long arm of the X chromosome has resulted in an effective monosomy for chromosome 21.
Abnormalities, Multiple↗