Type O Renal Glucosuria

ABSTRACT. We observed a 7-year-old boy with virtual absence of renal tubular glucose reabsorption (type O renal glucosuria). Glucose titration studies in his family revealed severe type A renal glucosuria in a younger brother, a mild type A defect in the mother and normal glucose reabsorption in the father; thus a spectrum of renal glucose transport defects was observed in members of the same family.     

Extraction of Chronic Pacing Lead and Angioplasty for Complete Superior Baffle Obstruction in Complex Congenital Heart Disease

Laser lead extraction in adult patients with congenital heart disease is safe and effective. Baffle angioplasty for obstruction in patients with a Mustard procedure is well established. We describe a unique combined interventional and electrophysiological approach on a patient with superior baffle obstruction. This technique utilized the channel created after extracting the chronic pacing lead to cross the obstruction and stent angioplasty of the superior baffle.     

Identification of two novel mutations in non-Jewish factor XI deficiency

Summary. We have studied two heterozygous unrelated CRM non-Jewish FXI-deficient patients. Neither of the patients carries a previously described mutation. Their FXI genes were screened by SSCP analysis following PCR amplification of each exon and the flanking intronic sequences. DNA fragments showing aberrant mobility were cloned and sequenced. The following mutations were identified: in case 1, a T to G transition in exon 12 results in the substitution of Phe-442 by Val (FXI-F442V); in case 2 a C to A transition in exon 5 results in the substitution of Cys-128 by a nonsense codon (FXI-C128X). The missense mutation results in a substitution within the protease domain of FXI. Molecular modelling locates this residue in a structurally conserved region of the protease domain and the amino acid substitution may therefore interfere with either chain folding and subsequent secretion or the stability of the protein in plasma. We conclude that the mutations which we have identified are responsible for the inherited abnormality in these patients.     

Donor lymphocyte infusion for childhood acute lymphoblastic leukaemia relapsing after bone marrow transplantation

Four children with acute lymphoblastic leukaemia (ALL) who relapsed after allogeneic bone marrow transplantation (BMT) were treated with donor lymphocyte infusion (DLI) without prior conditioning. Three patients had previously received a non-T-cell-depleted matched sibling BMT and the fourth had a T-cell-depleted matched unrelated BMT. Two patients developed grade III–IV acute graft-versus-host-disease (GVHD) of the skin, which required intervention. Both are alive in complete haematological remission 7 and 10 months from DLI with chronic GVHD of the skin requiring immunosuppressive therapy. A third patient went into haematological remission 6 weeks after DLI, but with no clinical evidence of GVHD. His bone marrow remained in remission 11 months post-DLI despite the disease (ALL) relapsing in extramedullary sites. The fourth patient showed no clinical or haematological response to three consecutive doses of DLI given at 4-weekly intervals and died from progressive disease 11 months after relapse. These preliminary observations indicate that in constrast to experience in adult ALL, DLI may be effective in inducing sustained remission in children with ALL relapsing after BMT, and a response may occur even in the absence of clinical evidence of GVHD.     

Transtelephonic Monitoring of a Tachycardia-terminating Pacemaker

A 66-year-old female with recurrent supraventricular tachycardia which worsened progressively was treated with an implanted tachycardia-terminating pacemaker after treatment with antiarrhythmic drug therapy had failed. The pacemaker had the capacity to detect and respond to tachyarrhythmias. Reliable sensing and termination of the patients tachycardia was accomplished in over 100 inductions of the tachyarrhythmia. Use of this tachycardia-terminating pacer has given us several new insights that may be important in the care and follow-up of all pacemaker patients.     

EFFECT OF ACUTE AND CHRONIC NEUROLEPTIC THERAPY ON SERUM PROLACTIN LEVELS IN MEN AND WOMEN OF DIFFERENT AGE GROUPS

A single fasting level of serum prolactin was measured in each of sixty control subjects and eighty-three psychiatric patients of both sexes who had been on neuroleptic therapy for 2-4 weeks (acute treatment) or at least 5 years (chronic treatment) and who were aged either 17-45 or 48-85 years. All groups of patients had significantly higher mean prolactin levels than controls. Gender, age group of women, and exposure to acute or chronic treatment were significant variables determining the magnitude of neuroleptic-induced elevation of prolactin. In some of the groups, dose, duration of chronic therapy, and concomitant administration of anticholinergic drugs also influenced prolactin levels. Whereas all acutely treated women had prolactin values above the control range, one out of twelve (8.3%) of the women aged 17-45 years and six out of fourteen (42.9%) of the women aged 48-85 years who were under chronic treatment had normal values. Normal prolactin levels were also found in five out of sixteen (31.2%) of the acutely treated and nine out of twenty-four (37.5%) of the chronically treated men aged 17-85 years.     

Unifocal Langerhans’cell histiocytosis (eosinophilic granuloma) resembling Ewing's sarcoma

In a 9 year old boy, a destructive lesion in the diaphysis of the right femur was wrongly diagnosed as a Ewing's sarcoma on the basis of the radiologic findings and fine needle aspiration cytology report. The clinical and radiologic picture was suggestive of Ewing's sarcoma, but an open biopsy of the lesion revealed a histopathological picture of eosinophilic granuloma. A brief review of the literature is given, together with discussion on the differential diagnosis of a mid shaft femoral lesion in young patients.