Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.862C>T (p.R288W), c.904G>A (p.R302G), c.1535T>C (p.L512P), c.700C>T (p.Q234X), while nine novel mutations were identified: four missense c.82C>A (p.R28S), c.494G>A (p.C165Y), c.464G>A (p.C155Y), c.1750G>A (p.G584E), one deletion c.142_144delAGAAGA (p.R48_G50del), and four splice site mutations c.241-2A>G, c.839+4A>G, c.1350-2A>G, c.1566+1G>A. Carrier analysis was performed in 10 mothers and 11 female relatives. The results of this study further support the notion that molecular genetic testing represents an important tool for definitive and early diagnosis of XLA and may allow accurate carrier status and prenatal diagnosis.     

Immune regulation by novel costimulatory molecules

CD4 helper T (Th)-cells and the cytokines that they produce play essential regulatory roles in immune and autoimmune responses. Th activation and differentiation is regulated by costimulatory receptors. CD28 and CTLA-4 are important in maintaining the threshold of T-cell activation. ICOS and PD-1 are novel costimulatory receptors expressed on activated T-cells. B7-H3 recognizes a putative costimulatory receptor on activated T-cells. Here we summarize the latest developments in the novel costimulatory molecules and their roles in regulating Th activation, differentiation, and function.     

Assessment of different methods for staining Helicobacter pylori in endoscopic gastric biopsies

The recent implication of Helicobacter pylori in the pathogenesis of gastritis-peptic ulcer syndrome and its relevance for the development of upper gastrointestinal malignancy warrant efficient methods for the detection and demonstration of the organism in biopsy specimens. We have compared 5 staining methods, namely, haematoxylin and eosin (H & E), immunohistochemistry (IHC), the silver staining HpSS, the alcian yellow-toluidine blue (Leung) method (A-Y) and Genta staining, for the demonstration of the organism in gastric biopsies taken from antrum, body and fundus of 118 patients who presented to our hospital with upper gastrointestinal symptoms. We found no significant differences in the efficacy of H & E, IHC, HpSS and A-Y in the demonstration of H. pylori in all 3 gastric sites. The least reproducible stain in our hands was the Genta stain. We conclude that H & E is adequate for the initial assessment of gastric biopsies in symptomatic upper gastrointestinal patients. This is because it is a well-tested, cheap and easy staining method, requiring a relatively short period of time to perform, with highly reproducible results. It has an added advantage of enabling simultaneous assessment of morphological changes accompanying H. pylori infection. When the density of the organism is expected to be low, we recommend addition of HpSS staining because of its high sensitivity and low cost. The disadvantages of the other staining methods (IHC, A-Y and Genta) are discussed.     

Nonintegrated viral DNA in rat cells doubly transformed by SV40 and polyoma virus.

Rat F2408 cells transformed by polyoma virus contain, in addition to integrated viral genomes, a small number (an average of 20–50 copies per cell) of nonintegrated viral DNA molecules. On the other hand, SV40-transformed rat cells contain only integrated viral genomes. SV40-transformed rat cells also differ from the polyoma transformants, in that they grow in soft agar medium at a much slower rate. Cells doubly transformed by polyoma and SV40 can be easily isolated following polyoma superinfection of SV40-transformed rat cells, as their rate of growth in agar is enhanced. These doubly transformed cells yield polyoma or SV40, respectively, after fusion with cells permissive for each virus. However, only polyoma-specific DNA sequences can be detected in these cells in a “free” state.     

Some unusual and severe forms of adverse drug reactions: a call for setting adverse drug reaction monitoring centres

Thirty four patients aged 14 to 65 years (18 males and 16 females) admitted to the University Hospital with various unusual and severe forms of adverse drug reactions were studied. It comprised of toxic epidermal necrolysis in 8 patients, systemic vasculitis in 7 of which 3 patients had gangrene of fingers and/or toes, severe erosive gastritis in 9 patients, Stevens-Johnson syndrome in 7 patients, thrombocytopenic purpura in 2 patients and generalised convulsions in 1 patient. Various drugs responsible for causing these adverse drug reactions included antibacterials, antimalarials, anticonvulsants, antituberculars and nonsteroidal anti-inflammatory drugs. Most of the patients recovered. However, 5 of the 8 patients having toxic epidermal necrolysis died of which 2 patients had developed tetanus as a preterminal event. In view of ongoing addition of newer drugs to the therapeutic armamentarium and an increasing incidence of various unusual and severe forms of adverse drug reactions, it is our contention that a separate adverse drug reaction monitoring cell should be established in every hospital setting.     

A giant vascular hamartoma of the breast in a child

Vascular tumors of the breast are uncommon. Perilobular hemangiomas, the commonest histologic subtype of breast hemangiomas, constitute majority of microscopic, vascular mammary tumors. Macroscopic hemangiomas and vascular hamartomas of the breast are distinctly rare. We describe a giant, vascular hamartoma of the right breast in a five year old girl and discuss pertinent literature.     

A survey of technical considerations in the construction of intestinal stomas

Reported complications rates for the construction of intestinal stomas are high. Many of these complications result from improper construction, improper location, or other technical errors. In order to sample the techniques of stoma construction currently in use, a survey was conducted at the 69th Annual Clinical Congress of the American College of Surgeons in Atlanta in conjunction with our scientific exhibit "Complications of Intestinal Stomas." A total of 245 surgeons completed the questionnaire with a mean age of 47.8 years. The routine use of fascial-seromuscular tacking sutures and primary maturation of a loop colostomy in the presence of distal obstruction were among the most controversial technical points considered. Many other subtle but important principles of stoma construction were also discussed. In addition, the authors contend that many of the techniques currently in use result from an underemphasis on the importance of proper stoma construction in many surgical training programs.     

Liver profile in COVID-19: a meta-analysis

Journal of Public Health - Few studies have been performed to investigate multiorgan failure occurring with extrapulmonary symptoms like diarrhea, anorexia, and vomiting. There has been no attempt...     

Direct versus indirect transfer for traumatic brain injury to James Cook University Hospital: a retrospective study

IntroductionPatients with traumatic brain injury are referred to the neurosurgical unit at James Cook University Hospital, Middlesbrough, either from local accident and emergency departments (direct transfer from the scene) or from other hospitals (indirect transfer). This study looked at the outcome in both groups.Material and methodsThis was a retrospective observational study using trauma audit research network data for patients treated for traumatic brain injury at the neurosurgery department at the neurosurgical unit at James Cook University Hospital.ResultsA total of 356 patients with traumatic brain injury were admitted under the care of neurosurgeons; 143 (40%) of these patients had a neurosurgical procedure. Of the patients undergoing a neurological procedure, 111 patients were transferred directly while 32 were indirect transfers; 213 patients were managed conservatively. Of those managed conservatively, 165 were transferred directly while 48 were indirect transfers.We compared the length of hospital stay and Glasgow Outcome Scale score for the patients based on whether they were conservatively managed or required surgery in the direct and indirect transfer groups. The difference in the length of stay in the surgical and conservative groups following direct and indirect transfer was insignificant (p = 0.07). The time to the operation in direct and indirect transfer was also not statistically significant (p = 0.06).ConclusionPatients are as safe, if not safer, by reaching the nearest trauma unit with facilities for resuscitation and imaging.