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R Braham

Publications and source records attributed to R Braham.

14 recordsLinked to original sources
PubMed2026

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

OBJECTIVE: Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this. In England, VUS that fit the fetal phenotype and require little further evidence for upgrade are discussed at multidisciplinary team (MDT) meetings to determine whether to report. We review the VUS reported by one English laboratory that provides prenatal sequencing to half of England. METHOD: The laboratory's database was searched from 01/10/2020 to 30/04/2025 to ascertain all cases where a VUS was reported. Pregnancy outcomes were obtained from local clinical teams to determine whether the VUS status had been resolved. RESULTS: VUS were reported in 41/881 fetuses sequenced. Follow-up data were available for 38/41 cases, of which 23 were subsequently upgraded to likely pathogenic and 1 downgraded to likely benign. The most common reason for upgrade was new information from post-mortem or postnatal review (17/23). CONCLUSION: There is clinical utility in reporting VUS from prenatal sequencing following MDT discussion. Although reporting VUS leaves parents with uncertainty, follow up (including post-mortem when applicable) resolves this in over 50% of cases (79% of cases re-examined pre- or postnatally).

Humans↗
PubMed2005

Should football players wear custom fitted mouthguards? Results from a group randomised controlled trial.

OBJECTIVE: Head/orofacial (H/O) injuries are common in Australian rules football. Mouthguards are widely promoted to prevent these injuries, in spite of the lack of formal evidence for their effectiveness. DESIGN: The Australian football injury prevention project was a cluster randomized controlled trial to evaluate the effectiveness of mouthguards for preventing H/O injuries in these players. SETTING AND SUBJECTS: Twenty three teams (301 players) were recruited from the largest community football league in Australia. INTERVENTION: Teams were randomly allocated to either the MG: custom made mouthguard or C: control (usual mouthguard behaviours) study arm. MAIN OUTCOME MEASURES: All injuries, participation in training and games, and mouthguard use were monitored over the 2001 playing season. Injury rates were calculated as the number of injuries per 1000 person hours of playing time. Adjusted incidence rate ratios were obtained from Poisson regression models. RESULTS: Players in both study arms wore mouthguards, though it is unlikely that many controls wore custom made ones. Wearing rates were higher during games than training. The overall rate of H/O injury was 2.7 injuries per 1000 exposure hours. The rate of H/O injury was higher during games than training. The adjusted H/O injury incidence rate ratio was 0.56 (95% CI 0.32 to 0.97) for MG versus C during games and training, combined. CONCLUSIONS: There was a significant protective effect of custom made mouthguards, relative to usual mouthguard use, during games. However, the control players still wore mouthguards throughout the majority of games and this could have diluted the effect.

Adolescent↗
PubMed2004

Community level Australian Football: a profile of injuries.

Identification of injuries and their risk factors is required in order to develop risk controls within the context of sports injury prevention. The Australian Football Injury Prevention Project (AFIPP) was a randomised controlled trial (RCT) examining the effects of protective equipment on injury rates in Australian Rules Football. The aim of this paper is to describe the general injury profile of community level Australian Football players over one season, as recorded during this RCT. Players were recruited from the largest community football league in Victoria, Australia, during the 2001 playing season. A total of 301 players participated (64% response rate) and all injuries occurring during training and games were recorded. The overall injury incidence rate was 12.1/1000 player hours. Bruises/soft tissue injuries made up more than a quarter of all injuries (28%) and the leg (lower leg, ankle, thigh/hamstring and knee) was the most commonly injured body region. Most injuries occurred at the beginning of the season (April-May, 53% of injuries), during competition (77%) and through body contact (49.9%). Midfielders (OR = 3.39, 95% CI: 1.13, 10.14) and players aged at least 25 years (OR = 2.15, 95% CI: 1.06, 4.34) were significantly more likely to experience an injury than other playing positions and younger players. Although the injury rate in this study was lower than that in previous studies, the results are consistent with the finding that injuries tend to occur earlier in the season and more commonly during competition. Injury prevention efforts should be particularly targeted at midfielders and older players.

Adolescent↗
PubMed2004

The incidence of head/neck/orofacial injuries in non-elite Australian football.

Injuries to the head/neck/orofacial region are common in contact and collision sports such as Australian Football. A total of 294 players who did not wear headgear from 23 teams from a large metropolitan community football league in Victoria, Australia, were monitored for head/neck/orofacial injuries over one playing season. This short report describes the incidence of head/neck/orofacial injuries in this cohort. Overall, there were 37 head/neck/orofacial injuries reported at a rate of 2.6 injuries/1000 participation hours. Over 70% of these were the result of being struck by another player through inadvertent contact during competitive play. Facial lacerations were most common (0.97/1000 player hours), followed by concussion (0.49/1000 player hours). Nine of the cases were referred to hospital for further treatment.

Adult↗
PubMed2004

Non-participation in sports injury research: why football players choose not to be involved.

OBJECTIVE: To ascertain the reasons behind players not participating in a sports safety research project. METHODS: During the preseason, 10 Australian football clubs volunteered 23 teams to participate in a protective equipment randomised controlled trial, the Australian Football Injury Prevention Project (AFIPP). All players from these teams were invited to participate. Players who did not agree to participate in AFIPP were surveyed about their reasons for non-involvement. RESULTS: 110 football players (response rate 63.6%) completed the non-responder survey and cited the two main reasons behind non-involvement in the project as "I did not know about the project" (39.4%) and "I was not at training when the research team visited" (36.5%). CONCLUSIONS: and implications: Preseason may not be the best time for maximal player recruitment in community based sports safety research. Enhanced communication between researchers and players at community level football clubs during the recruitment phase is likely to improve response rates.

Adult↗
PubMed2003

The effect of glucosamine supplementation on people experiencing regular knee pain.

OBJECTIVE: The purpose of this study was to examine the effects of oral glucosamine supplementation on the functional ability and degree of pain felt by individuals who had regular knee pain, most likely due to previous articular cartilage damage, and possibly osteoarthritis. METHODS: Subjects were randomly supplemented with either glucosamine (G) (n=24) or placebo (P) (lactose) (n=22) for 12 weeks at a dose of 2,000 mg per day. Over this period, four testing sessions were conducted, with changes in knee pain and function assessed by clinical and functional tests, (joint line palpation, a 3 metre "duck walk" and a repeated, walking stair climb), two questionnaires (the Knee Injury and Osteoarthritis Outcome Score (KOOS) and the Knee Pain Scale (KPS)) and participant subjective evaluations. RESULTS: The clinical and functional test scores improved with time (main effects: p<0.05, p<0.01) but there were no significant differences between the two groups. The questionnaire results also recorded a significant main effect for time (p<0.05), but the glucosamine group was found to have significantly better KOOS quality of life scores at week eight and 12 (p<0.05), and lower KPS scores (p<0.05) at week eight than the placebo group. On self report evaluations of changes across the 12 week supplementation period, 88% (n=21) of the glucosamine group reported some degree of improvement in their knee pain versus only 17% (n=3) in the placebo group. CONCLUSIONS: These results suggest that glucosamine supplementation can provide some degree of pain relief and improved function in persons who experience regular knee pain, which may be caused by prior cartilage injury and/or osteoarthritis. The trends in the results also suggest that, at a dosage of 2,000 mg per day, the majority of improvements are present after eight weeks.

Administration, Oral↗
PubMed2003

Balloon dilatation of anastomotic strictures secondary to surgical repair of oesophageal atresia.

The purpose of this study was to evaluate the efficiency and safety of oesophageal balloon dilatation in strictures secondary to surgical treatment of oesophageal atresia in 25 children. Patients comprised 15 males and 10 females, aged 1-36 months. Median age was 4 months (interquartile range (IQR)=19). The strictures were more than 50% of oesophageal lumen and the delay from surgical treatment to balloon dilatation varied from 1 month to 36 months. Associated gastroesophageal reflux was noted in 15 patients. All procedures were performed under sedation using fluoroscopic guidance. Balloons of increasing diameter, 4-20 mm were used. Water soluble contrast swallow was performed after each dilatation session. A total of 115 balloon dilatation sessions were performed with a range of 1-14 procedures per patient (median 4 dilatations, IQR=4.5). Dilatation relieved the stricture in all patients over a follow-up period varying from 4 months to 33 months. The best results were noted in children under 6 months, who needed two or few dilatation sessions, with relative risk (RR) of 0.52 and 95% confidence interval of 0.29-0.92. The presence of associated gastroesophageal reflux indicated a high risk (RR of 12, p<0.001) for undergoing more than two balloon dilatation sessions. The only serious complications observed were two cases of oesophageal perforation, which were treated conservatively. Fluoroscopically guided balloon dilatation is a safe and effective treatment in the management of strictures secondary to surgical repair of oesophageal atresia, especially when started early (within 6 months of surgery) and not associated with gastroesophageal reflux.

Catheterization↗
PubMed2001

A rapid assay for detecting sulfonamides in tissues of slaughtered animals.

Governments regulate antimicrobial residues in slaughtered animals with surveillance programs for detecting drugs in food-producing animals. Although initial screening bioassay systems are recognized for their sensitivities to antimicrobial drug groups, none are sensitive to sulfonamides at or near the maximum residue levels (MRLs) in the Codex Alimentarious. We have developed a sulfonamide-sensitive rapid assay using Bacillus stearothermophilus inoculated PM indicator agar containing bromcresol purple and trimethoprim, where the end point is a combination of color change in the agar and zone of microbial growth inhibition around the sampling disk. Five sulfonamides, plus 16 other antimicrobial drugs were tested in standard concentrations in water, bovine kidney, and ground beef. Sulfonamides were detected at concentrations near the MRLs, and they were presumptively identified using para-aminobenzoic acid. The rapid assay was extremely sensitive to beta-lactams that were presumptively identified using penase. The system also was sensitive to tetracyclines, aminoglycosides, and macrolides, of which tetracyclines and gentamicin were identified using enzyme-linked immunosorbent assay (ELISA). In trials on slaughterhouse tissues submitted for testing in Ontario's meat surveillance program, the rapid assay identified twofold the number of positive kidneys and threefold the number of positive diaphragm samples compared to a standard microbiological inhibition test (MIT) currently approved. Fifty-three of 471 carcasses were sulfonamide positive with the rapid assay, while no sulfonamides were detected with the MIT. ELISA and thin-layer chromatography were used on selected samples to confirm the rapid assay sulfonamide presumptive results.

Animals↗
PubMed2001

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

A severe form of autosomal recessive osteopetrosis associated with Dandy-Walker syndrome and agenesis of the corpus callosum is reported in a full-term boy born to consanguineous parents. The diagnosis was made shortly after birth. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling. Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus. The patient rapidly developed severe medullary deficiency and a severe pulmonary infection. He died at the age of 2 months. This association seems extremely rare and was not previously reported in the literature.

Abnormalities, Multiple↗
PubMed1998

[Testicular microlithiasis].

Testicular microlithiasis is an uncommon condition in which calcified concretions fill the lamina of seminiferous tubules. It has a specific appearance on sonography with diffuse intra testicular echogenic foci without acoustic shadows. Testicular microlithiasis can be associated with various entities and frequently with primary testicular neoplasm. The authors report a new case of testicular microlithiasis diagnosed by sonography in a 14-year-old boy with epididymo-orchitis. Based on a review and discussion of the literature, the authors emphasize the importance of regular and protracted ultrasound follow-up and monitoring of serum tumour markers to allow early detection of primary testicular neoplasm.

Adolescent↗
PubMed1988

On the behavior of some associative neural networks.

Since Hopfield published his work on an associative memory model, a large number of works have studied the model from several angles and showed in particular its weaknesses, and presented ways to overcome them. Most of the proposed solutions seem to us however not biologically plausible. In this paper we present a simple statistical analysis of two networks similar to the Hopfield net, and show that the usage of positive feedback enhances the net recognizing capability without jeopardizing the stability. We also describe a layered parallel network composed of modules, each module being a modified Hopfield net. We finally present computer simulation results to support our analytical findings. The most important principles of this network are supported by data from the world of neurobiology.

Artificial Intelligence↗