Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.

Context: X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the PHEX gene and is the most common form of hereditary rickets. The splice-site mutations account for 17% of all reported PHEX mutations. The functional consequence of these splice-site mutations has not been systemically investigated.

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied.

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.

Background: Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed.

Methodology: Clinical features and mutation spectrum were investigated in patients with hereditary hypophosphatemia.

Conservative treatment for Brucella testicular abscesses: A case report and literature review.

Brucellosis is a multi-organ infectious disease that can cause genitourinary manifestations.1-4 The most common genitourinary manifestation is orchitis;2,4 however, intratesticular abscesses are a rare complication. Although surgery is the standard treatment for intratesticular abscesses, medical therapy alone can be successful.

Differential Gene Expression of BRCA1,ERBB2 and TP53 biomarkers between Human Breast Tissue and Peripheral Blood Samples of Breast Cancer.

Breast cancer is a most common malignancy especially in Iraqi women accounting for high morbidity and mortality. Mutations in BRCA1 gene is one of the important genetic predisposing factors inbreast cancer. Similarly ERBB2 and TP53 are also key prognostic markers in breast cancer treatment.

A randomized maternal evaluation of epinephrine autoinjection devices.

Background: Intramuscular epinephrine (adrenaline) is the first-line therapy for anaphylaxis and prompt administration improves outcome. In 2011, two epinephrine autoinjectors existed in the United Kingdom, differing in their users' administration method: EpiPen(®) and Anapen(®) . We routinely train all families who receive these devices.

The use of adrenaline autoinjectors by children and teenagers.

Background: Although adrenaline is recommended as first line treatment for anaphylaxis, it is often not utilized. There has been a debate about when adrenaline autoinjectors should be prescribed and how many should be dispensed.

Objectives: To see how many adrenaline autoinjectors were used during anaphylactic reactions and to determine why they were not used in situations where they were clinically indicated.

The RCPCH care pathway for children at risk of anaphylaxis: an evidence and consensus based national approach to caring for children with life-threatening allergies.

Aims: Numerous studies have identified shortcomings in the management of children at risk of severe acute allergic reactions (anaphylaxis). The Science and Research Department at the Royal College of Paediatrics and Child Health (RCPCH) was commissioned by the Department of Health to develop competence based national care pathways for children with allergies. Anaphylaxis is the first completed pathway.

An evaluation of the completeness of reporting of childhood tuberculosis.

The sensitivity of the Enhanced Tuberculosis Surveillance (ETS) scheme for monitoring tuberculosis in children is unknown. We used the British Paediatric Surveillance Unit (BPSU) reporting scheme to conduct a prospective observational study of tuberculosis in children aged <16 yrs in the UK. Reported cases were then matched with records from the ETS database.

Tuberculosis in the United Kingdom and Republic of Ireland.

Aims: To describe the clinical features, diagnosis and management of children with tuberculosis in the United Kingdom and Republic of Ireland.

Methods: Cases of culture-confirmed and clinically diagnosed tuberculosis were reported to the British Paediatric Surveillance Unit from December 2003 to January 2005.

Results: 385 eligible cases were reported.

Active surveillance for tuberculosis in Wales: 1996-2003.

Aims: To estimate the incidence of active tuberculosis (TB) and study the use of chemoprophylaxis for latent TB in children in Wales, and to identify potential areas for improving prevention and management.

Methods: Active surveillance for TB in children aged 0-15 years from July 1996 to December 2003, using the Welsh Paediatric Surveillance Scheme.

Results: A total of 232 children, 102 with active TB (2.

Ethnic differences in selective neonatal BCG immunisation: white British children miss out.

Background: Tuberculosis (TB) is a re-emerging problem, especially in the larger cities of Western Europe. Selective neonatal BCG vaccination is recommended for infants at risk of TB in the UK. Neonatal BCG is safe and effective, with an overall protective value of 75%.

Housewife onycholysis.

Objective: The aim of this study was to evaluate the clinical and microbiological aspects of onycholysis in Iraqi housewives.

Methods: One hundred housewives with onycholysis of the finger nails were evaluated clinically in the Department of Dermatology and Venereology, Baghdad Teaching Hospital, Baghdad, Iraq between October 2002 to March 2003. Swabs were taken from those patients for microbiological evaluation in the Department of Microbiology, College of Medicine, University of Baghdad, Baghdad, Iraq.

Neonates do not need to be handled for radiographs.

Background: The handling of sick neonates may have detrimental effects such as hypoxia or bradycardia. Such handling is inevitable due to the frequent need for practical procedures; however, minimising handling reduces these adverse events and may improve outcome. Radiography is one of the commonest procedures performed on neonates.

General paediatricians and the case of resolving peanut allergy.

Children with peanut allergy are almost always advised to avoid nuts for life. There have been recent reports from academic centres that in some cases the allergy might resolve and thus these dietary restrictions can be lifted. To evaluate resolution of peanut allergy in a selected group of children in a general paediatric setting.

Vitamin D deficiency in pregnant women from a non-European ethnic minority population--an interventional study.

Objective: To determine the vitamin D status of pregnant women from non-European ethnic minorities in South Wales.

Design: Prospective study.

Setting: Llandough Hospital, Cardiff, South Wales.

Management of tuberculosis in Wales: 1986-92.

Objectives: To describe the epidemiology of childhood tuberculosis in Wales and to assess the standard of management of patients with tuberculosis.

Design: Retrospective study of data retrieved from case notes and review of radiographs of all identified patients.

Subjects: Forty eight cases of tuberculosis and 10 of tuberculosis chemoprophylaxis in children under 15 years of age, in Wales, between January 1986 and December 1992.

Antiphospholipid syndrome presenting as episodic limb ischaemia.

A child presented with ischaemic episodes of his left leg from the age of 2 months. He was found to have raised anticardiolipin antibodies so was started on low dose aspirin. At a three year follow up he was asymptomatic with a normal anticardiolipin antibody level while taking aspirin daily, probably for life.

Vitamin D deficiency: a concern in pregnant Asian women.

Vitamin D status of Asian mothers in Cardiff was investigated during early pregnancy and at the time of the birth of their babies, using serum parathyroid hormone (PTH). Median values in Asian (n 32) and Caucasian (n 63) mothers in early pregnancy were 1.56 and 0.

Assessment of in-line filters to prolong the life of intravenous cannulae in cystic fibrosis patients.

Twelve patients with cystic fibrosis received 12 courses of intravenous antibiotics, each over 10-14 days, both with and without the use of an extended-life disposable filter. The design of the trial was to replace the Venflon cannulae as they became non-patent and inserting a filter on alternate occasions. Thus each patient acted as her/his own control.