The MUC3 gene encodes a transmembrane mucin and is alternatively spliced.

Epithelial mucins are a family of secreted and cell surface glycoproteins expressed by epithelial tissues and implicated in epithelial cell protection, adhesion modulation and signaling. The gene encoding human MUC3 (hMUC3), localised to chromosome 7q22, is most highly expressed in the small intestine. It has previously been reported to be a non-transmembrane mucin with minimal homology to its suggested orthologues from rat (rMuc3) and mouse (mMuc3).

Needs of parents of the child hospitalised with acquired brain damage.

This paper describes the findings of a descriptive study into needs of parents of children with Acquired Brain Damage during hospitalisation. Thirty four parents of 28 children treated at a tertiary referral pediatric hospital were interviewed. Parents described their experiences during their child's hospitalisation and identified needs which, when met, enabled them to care for their children and cope with the sudden illness and disabilities.

The cutaneous porphyrias: a review. The British Photodermatology Group.

Many patients with cutaneous porphyria have curable or controllable disease; untreated porphyria may prove fatal. The genetic defects and mechanisms underlying porphyria are steadily being delineated, treatments have become more appropriate and genetic counselling is now more accurate. A summary of the basic diagnostic features, management and recent advances in the cutaneous porphyrias is presented, based on a workshop held by the British Photodermatology Group.

Mortality and neurodevelopmental outcome for infants receiving adrenaline in neonatal resuscitation.

Objective: To document the outcome, in terms of mortality and morbidity, for all infants requiring adrenaline as part of initial neonatal resuscitation, and to identify the differences between term and preterm infants.

Methods: All infants in a five-year period who received adrenaline during delivery room resuscitation were retrospectively identified. Data from the perinatal period were ascertained by chart review.

Maternal hypertension and neurodevelopmental outcome in very preterm infants.

Aim: To determine the outcome of preterm infants born to mothers with hypertension during pregnancy, and preterm controls.

Methods: 107 infants of 24-32 weeks gestation, born to hypertensive mothers, and 107 controls matched for gestational age, sex, and multiple pregnancy, born to normotensive mothers, were prospectively enrolled over 2 years. Information on maternal complications and medication was obtained and neonatal mortality and morbidities recorded.

Thrombopoietin measurement in thrombocytosis: dysregulation and lack of feedback inhibition in essential thrombocythaemia.

Essential thrombocythaemia (ET), a myeloproliferative disorder (MPD) manifested by excessive platelet production, lacks a specific diagnostic test to facilitate differentiation from other thrombocytoses. We studied thrombopoietin (TPO) levels in 41 patients with thrombocytosis: 25 ET patients, eight with other MPD, and eight with reactive thrombocytosis. Mean age and platelet counts for these groups were comparable.

High response rates with short infusional 2-chlorodeoxyadenosine in de novo and relapsed low-grade lymphoma. Australian and New Zealand Lymphoma Study Group.

Thirty-five patients (eight de novo, 27 relapsed disease) with low-grade non-Hodgkin's lymphoma (diffuse small lymphocytic, follicular small cleaved cell, follicular mixed cell, and lymphoplasmacytoid) were treated with 2-chlorodeoxyadenosine (2CdA) at a daily dose of 0.14 mg/kg for 5d (2 h infusion) for an average of three cycles. Minor treatment delays, generally due to haematological toxicities, occurred in nine of 105 cycles.

Granulocyte colony stimulating factor treatment for alloimmune neonatal neutropenia.

Granulocyte colony stimulating factor (G-CSF) treatment was successfully used in three preterm infants with alloimmune neonatal neutropenia (AINN). Two infants had persistent neutropenia despite treatment with intravenous immunoglobulin and random donor granulocyte transfusions for presumed sepsis. Neutrophil counts returned to normal with G-CSF treatment; the response was least convincing in one infant with fulminant necrotising enterocolits.

Neurodevelopmental outcome of preterm infants with bronchopulmonary dysplasia.

The neurodevelopmental outcome of 78 infants with bronchopulmonary dysplasia (BPD) was compared with that of 78 control infants matched for birthweight. To determine the effect of the severity of BPD, 62 infants requiring oxygen at 36 weeks' postmenstrual age (sBPD) were compared with their matched controls. Infants were followed up to 2 years of age, corrected for prematurity, and were classified for neurological impairment, developmental delay, and neurodevelopmental disability.

Does counterperfusion supersaturation cause gas cysts in pneumatosis cystoides coli, and can breathing heliox reduce them?

The pathogenesis of pneumatosis cystoides coli remains obscure in the absence of an explanation for why pockets of gas should form in the first place and why they should be maintained in the wall and mesentery of the colon. Counterperfusion supersaturation could explain the formation and location of the gas cysts, which occur mostly near blood vessels on the mesenteric border of the colon, and the absence of methane gas in them. The hypothesis can be tested by treating patients with pneumatosis cystoides coli with heliox.

Training for rural general practice.

Objective: To identify requirements for vocational training and continuing education programs in rural general practice.

Design: A questionnaire was sent to all 487 rural doctors and 140 metropolitan and 140 provincial city general practitioners (GPs) in Queensland. A sample of medical educators, health professional and consumer representatives and rural doctors was also interviewed.

Myelodysplasia.

Myelodysplasia or myelodysplastic syndromes represent a heterogeneous group of bone marrow disorders characterized by dysmaturation, cytopenias, and a propensity for leukemic transformation. Although universally adopted, the French-American-British classification still has several limitations and an inability to categorize all patients. Refinements in morphologic and histologic interpretation in addition to the use of scoring systems may improve diagnostic and prognostic capability.

Use of X-linked clonal analysis in acute promyelocytic leukemia.

X-linked clonal analysis (XLCA) either using Glucose-6-phosphate dehydrogenase (G-6-P-D) polymorphisms or restriction fragment length polymorphisms (RFLP) and methylation analysis has provided considerable understanding of haematologic malignancy. Acute Promyelocytic Leukemia (APL) is characterized by a unique cytogenetic translocation t(15;17), frequent achievement of remission without a preceding phase of marrow hypocellularity after induction chemotherapy and a high rate of clinical response to all-trans retinoic acid (ATRA). In limited studies XLCA has provided insight into the pathogenesis and mechanism of drug action in this disease.

Hematologic scoring system in early diagnosis of sepsis in neutropenic newborns.

The hematologic profiles of 1000 newborns were prospectively examined to identify infants with neutropenia (N = 170) according to the system of Manroe et al. (J Pediatr 1979;95:89-98) and to evaluate a hematologic scoring system (Rodwell et al. J Pediatr 1988;112:761-7) as a screening test for sepsis.

Suppression of monocyte and neutrophil function by recombinant IL-2.

Little IS known about the influence of IL-2 on phagocytes. We now describe the effects of human recombinant IL-2 on human neutrophil and monocyte functions related to mobility, phagocytosis, glucose uptake, respiration and degranulation. Neutrophil adherence and hexose monophosphate shunt activities were both suppressed after incubation with IL-2.

Granulocyte colony stimulating factor in the management of chronic neutropenia.

Objective: To report two cases of chronic neutropenic states successfully treated with granulocyte colony stimulating factor (G-CSF).

Clinical Features: A 23-year-old man with severe congenital cyclic neutropenia causing lifelong recurrent infections and consequent debilitation presented with intractable infected leg ulcers. A 56-year-old man with acquired idiopathic neutropenia presented with severe perianal infection and sepsis.

Capillary plasma elastase alpha 1-proteinase inhibitor in infected and non-infected neonates.

Capillary heel prick plasma elastase alpha 1-proteinase inhibitor (E alpha 1-PI) measured by an immunoassay (using commercially available reagents) was examined as an early indicator of neonatal sepsis. Fifty five infants were studied within 24 hours of birth; 60 (including 10 studied on the first day of life) were examined between two and 30 days after birth. Reference ranges for the neonatal period were developed.

Monoclonal large granular lymphocyte proliferation in SLE with HTLV-I seroreactivity.

A 60-year-old part Aboriginal woman was observed to develop severe neutropenia and a large granular lymphocyte (LGL) proliferation five years after the diagnosis of systemic lupus erythematosus (SLE). Monoclonality of the CD3+, CD4-, CD8+ LGL population was confirmed using the novel approach of X-linked restriction fragment length polymorphism (RFLP) analysis. Indeterminate HTLV-I serology was present.

Biotypes of Haemophilus influenzae that are associated with noninvasive infections.

In this study, we examined the biotypes of Haemophilus influenzae strains associated with noninvasive infections in hospitalized patients. Over an 18-month period, a total of 388 strains were isolated from patients of various ages (neonates to the elderly), and the biotypes of the strains were determined. Strains of biotype II accounted for 48% of the isolates; this was followed by strains of biotypes III and I (26 and 16%, respectively).

Alloimmune neonatal neutropenia in Australian aboriginals: an unrecognized disorder?

Alloimmune neonatal neutropenia (ANN) is reported for the first time in two Australian aboriginals. Both infants displayed the typical clinical features of ANN with profound neutropenia which persisted for 7 weeks and only minor infectious episodes. However, management strategies differed for the two infants because in one case (complicated by uncertain paternity) serological confirmation of ANN was not obtained until after recovery of the infant's neutrophil count.