The developmental consequences of rare chromosome disorders : two case reports

Aim: As molecular and cytogenetic testing becomes increasingly sophisticated, more individuals are being diagnosed with rare chromosome disorders. Yet despite a burgeoning knowledge about biomedical aspects, little is known about implications for psychosocial development. The scant literature gives a general impression of deficits and adverse developmental outcomes. Method: Developmental data were obtained from two 16 year olds diagnosed with a rare chromosome disorder – a girl with 8p23.1 and a boy with 16q11.2q12.1. Measures of intellectual ability, academic achievement, and other aspects of functioning were administered at multiple time points from early childhood to adolescence. Results: Both adolescents experienced initial delays in motor and language development. Although the girl’s intelligence is assessed as being in the average range, she experiences difficulties with motor planning, spelling and writing. The boy has been diagnosed with a mild intellectual disability and demonstrates mild autistic features. Conclusions: The two case descriptions are in marked contrast to the published literature about these two chromosome anomalies. Both adolescents are developing much more positively than would be expected on the basis of the grim predictions of their paediatricians and the negative reports in the literature. It is concluded that, for most rare chromosome disorders, the range of possible developmental outcomes is currently unknown.

Phytophotodermatitis : case reports of children presenting with blistering after preparing lime juice

Letter to the Editor We read with interest the case report entitled ‘‘Contact with fig tree sap: An unusual cause of burn injury’’ by Mandalia et al. [1] and would like to report our similar experience with phytophotodermatitis caused by lime juice. Phototoxic dermatitis is understandably easily confused with a burn, particularly when a patient presents with large blisters of unknown mechanism. At the Royal Children’s Hospital Burns Centre, this injury was treated in the same manner as a burn and is described here...

Impact of cognitive behaviour therapy via mail for cessation of benzodiazepine use : a series of case reports

Benzodiazepines are widely prescribed to manage sleep disorders, anxiety and muscular tension. While providing short-term relief, continued use induces tolerance and withdrawal, and in older users, increases the risk of falls. However, long-term prescription remains common, and effective interventions are not widely available. This study developed a self-managed cognitive behaviour therapy package for cessation of benzodiazepine use delivered to participants via mail (M-CBT) and trialled its effectiveness as an adjunct to a general practitioner (GP)-managed dose reduction schedule. In the pilot trial, participants were randomly assigned to GP management with immediate or delayed M-CBT. Significant recruitment and engagement problems were experienced, and only three participants were allocated to each condition. After immediate M-CBT, two participants ceased use, while none receiving delayed treatment reduced daily intake by more than 50%. Across the sample, doses at 12 months remained significantly lower than baseline, and qualitative feedback from participants was positive. While M-CBT may have promise, improved engagement of GPs and participants is needed for this approach to substantially impact on community-wide benzodiazepine use.

Handwritten undergraduate case reports

Background: This article describes a 'back to the future' approach to case 'write-ups', with medical students producing handwritten instead of word-processed case reports during their clinical placements. Word-processed reports had been found to have a number of drawbacks, including the inappropriate use of 'cutting and pasting', undue length and lack of focus. Method: We developed a template to be completed by hand, based on the hospital 'clerking-in process', and matched this to a new assessment proforma. An electronic survey was conducted of both students and assessors after the first year of operation to evaluate impact and utility. Results: The new template was well received by both students and assessors. Most students said they preferred handwriting the case reports (55.6%), although a significant proportion (44.4%) preferred the word processor. Many commented that the template enabled them to effectively learn the structure of a case history and to improve their history-taking skills. Most assessors who had previously marked case reports felt the new system represented an improvement. The average time spent marking each report fell from 23.56 to 16.38minutes using the new proforma. Discussion: Free text comments from the survey have led to the development of a more flexible case report template better suited to certain specialties (e.g. dermatology). This is an evolving process and there will be opportunities for further adaptation as electronic medical records become more common in hospital. © Blackwell Publishing Ltd 2012.

A high-value, low-cost bubble continuous positive airway pressure system for low-resource settings:technical assessment and initial case reports

Acute respiratory infections are the leading cause of global child mortality. In the developing world, nasal oxygen therapy is often the only treatment option for babies who are suffering from respiratory distress. Without the added pressure of bubble Continuous Positive Airway Pressure (bCPAP) which helps maintain alveoli open, babies struggle to breathe and can suffer serious complications, and frequently death. A stand-alone bCPAP device can cost $6,000, too expensive for most developing world hospitals. Here, we describe the design and technical evaluation of a new, rugged bCPAP system that can be made in small volume for a cost-of-goods of approximately $350. Moreover, because of its simple design--consumer-grade pumps, medical tubing, and regulators--it requires only the simple replacement of a <$1 diaphragm approximately every 2 years for maintenance. The low-cost bCPAP device delivers pressure and flow equivalent to those of a reference bCPAP system used in the developed world. We describe the initial clinical cases of a child with bronchiolitis and a neonate with respiratory distress who were treated successfully with the new bCPAP device.

Secondary amyloidosis: a severe complication of ankylosing spondylitis. Two case-reports.

STUDY OBJECTIVE: To report two cases of amyloidosis secondary to ankylosing spondylitis. PATIENTS AND RESULTS: Of the 47 ankylosing spondylitis patients who have received follow-up at our department over the last few years, two have developed AA amyloidosis. Both have extremely severe, long-standing joint disease, with virtually complete spinal ankylosis and destructive peripheral arthritis of the hips and wrists; one also has tarsal joint destruction. Renal dysfunction was the first manifestation of amyloidosis in both cases. One patient required chronic hemodialysis and developed peritonitis due to colonic perforation, probably at a site of amyloid deposition. CONCLUSIONS: Secondary amyloidosis is a rare complication of ankylosing spondylitis that can cause severe renal and gastrointestinal complications. No treatment capable of clearing established amyloid deposits is available to date.

How deinstitutionalisation and the current public mental health system affects individuals with schizophrenia : four case reports

The professional component of this thesis focuses on how deinstitutionalisation and the current public mental health system have affected individuals with schizophrenia. Chapter one discusses the process of deinstitutionalisation and the research that has examined the impact of this initiative. Chapter two concentrates on schizophrenia, specifically the symptoms, course, etiological theories and treatments of this illness. Four case studies are then provided in order to explore how deinstitutionalisation and the current mental health system have affected individuals with schizophrenia. The names and identifying characteristics of these clients and their families have been modified to ensure anonymity. Chapter three describes a 47 year old woman, AA, who was referred for a neuro-psychological assessment. Chapter four outlines the second case study, a 23 year old male, BB, who was referred for a psychological assessment regarding diagnosis and treatment recommendations. Chapter five describes the third case study, a 54 year old woman, CC, who was referred for therapy and consultation regarding future treatment recommendations. Chapter six discusses the fourth case study, a 21 year old male, DD, who was seen for crisis intervention and treated in the community. Each of these case studies outlines the background history, formulation and treatment approaches. These case reports are used to illustrate how deinstitutionalisation and the present public mental health system affect individuals with schizophrenia. Chapter seven provides an overall discussion and conclusion to these case studies.

Late presentation of posterior urethral valve: two case reports

CONTEXTO: Válvula de uretra posterior (VUP) é uma conhecida malformação congênita urinária, geralmente diagnosticada em exames ultra-sonográficos pré-natais ou ao nascimento. Raramente, esta doença pode ser encontrada em adolescentes e em adultos. RELATO DE CASOS: Este artigo mostra dois casos de VUP, encontrados em um adolescente e em um adulto. Ambos apresentavam sinais clínicos de infecção do trato urinário e sintomas obstrutivos infravesicais. Os diagnósticos foram realizados por uretrocistografia miccional e uretrocistoscopia. Fulguração endoscópica das válvulas foi o tratamento de escolha para ambos os casos. O acompanhamento demonstrou melhora importante dos sintomas após o tratamento.

Toad poisoning in three dogs: case reports

Toad poisoning is frequent in dogs, but has been infrequently addressed in published case reports and review articles. Dogs can be poisoned when they bite a toad or otherwise ingest the venom. The venom effects manifest soon after the accident, since the toxin is rapidly absorbed by the mucous membrane of the digestive system. Hospital records of three dogs, diagnosed with toad poisoning, were retrospectively reviewed from January 2005 to July 2007. Poisoned dogs may present only local irritation or systemic signs in the gastrointestinal, cardiac and neurological systems. All three cases presented herein had clinical signs of gastrointestinal alterations including vomiting, sialorrhea and diarrhea. Two dogs developed abnormal cardiac rhythm and two exhibited neurological signs. A poisoned animal requires emergency care and symptomatic therapy with intense monitoring of its clinical parameters. Although there have been reports on the low mortality of dogs poisoned by toads, one animal died even after appropriate therapy. The severity of clinical signs and the risk of death must be considered by the veterinarian.

Enamel microabrasion followed by dental bleaching for patients after orthodontic treatment - Case reports

This article reports clinical procedures used to remove residual bonded resin and enamel stains following bracket debonding at the conclusion of orthodontic treatment. A water-cooled fine-tapered diamond bur was used for resin removal, followed by enamel surface finishing using a commercially available microabrasion paste. It was noted that residual tooth coloration remained yellowish because of enamel translucency; the yellow dentin shade showed through. Additional tooth shade lightening was achieved using carbamide peroxide dental bleaching solution in custom-formed trays. This report describes a safe and effective technique that optimizes tooth appearance at the conclusion of orthodontic therapy. Mechanical resin removal, enamel microabrasion, and tooth bleaching are employed.

Oral bisphosphonate-related osteonecrosis of the jaws in rheumatoid arthritis patients: a critical discussion and two case reports

Background: Bisphosphonate-related osteonecrosis of the jaw (BRONJ) is a clinical condition characterized by the presence of exposed bone in the maxillofacial region. Its pathogenesis is still undetermined, but may be associated with risk factors such as rheumatoid arthritis (RA). The aim of this paper is to report two unpublished cases of BRONJ in patients with RA and to conduct a literature review of similar clinical cases with a view to describe the main issues concerning these patients, including demographic characteristics and therapeutic approaches applied.Methods: Two case reports of BRONJ involving RA patients were discussedResults: Both patients were aging female taking alendronate for more than 3 years. Lesions were detected in stage II in posterior mandible with no clear trigger agent. The treatment applied consisted of antibiotics, oral rinses with chlorhexidine, drug discontinuation and surgical procedures. Complete healing of the lesions was achieved.Conclusions: This paper brings to light the necessity for rheumatologists to be aware of the potential risk to their patients of developing BRONJ and to work together with dentists for the prevention and early detection of the lesions. Although some features seem to link RA with oral BRONJ and act as synergistic effects, more studies should be developed to support the scientific bases for this hypothesis.

Cardiac trauma confirmed by cardiac markers in dogs: two case reports

Relatam-se dois casos de miocardite em cães. A avaliação radiográfica mostrou pneumotórax e padrão alveolar no lobo diafragmático pulmonar em um cão e arritmia em ambos os cães. As análises das proteínas cardíacas altamente sensíveis, como a CK-MB e a troponina I cardíaca, associadas ao histórico clínico e aos achados eletrocardiográficos, indicaram, com acurácia, a extensão da injúria miocárdica secundária ao trauma.