Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum

The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another.     

Rabies: relevance, prevention, and management in travel medicine

Rabies is a zoonotic viral disease, transmitted only in mammals. Terrestrial rabies, predominantly transmitted by dogs, is the most important rabies cycle threatening humans. The causative neurotropic virus is a negative-stranded RNA virus of the family Rhabdoviridae, genus Lyssavirus. This genus contains several rabies-related viruses. All variants are known or suspected to cause rabieslike diseases. Transmission occurs by the virus entering through the skin or the mucosa after bites, scratches, or preexisting injuries contaminated by the saliva of an infected mammal. Only 51 human rabies cases that have not been transmitted by animal bites are described.     

Chemical activation of a high-affinity glutamate transporter in human erythrocytes and its implications for malaria-parasite-induced glutamate uptake

Human erythrocytes have a low basal permeability to L-glutamate and are not known to have a functional glutamate transporter. Here, treatment of human erythrocytes with arsenite was shown to induce the uptake of L-glutamate and D-aspartate, but not that of D-glutamate or L-alanine. The majority of the arsenite-induced L-glutamate influx was via a high-affinity, Na(+)-dependent system showing characteristics of members of the "excitatory amino acid transporter" (EAAT) family. Western blots and immunofluorescence assays revealed the presence of a member of this family, EAAT3, on the erythrocyte membrane. Erythrocytes infected with the malaria parasite Plasmodium falciparum take up glutamate from the extracellular environment. Although the majority of uptake is via a low-affinity Na(+)-independent pathway there is, in addition, a high-affinity uptake component, raising the possibility that the parasite activates the host cell glutamate transporter.     

Does oxidative stress modulate limb muscle atrophy in severe COPD patients?

Oxidative stress may differentially regulate protein loss within peripheral muscles of severe chronic obstructive pulmonary disease (COPD) patients exhibiting different body composition. Oxidation levels of proteins, myosin heavy chain (MyHC) and myonuclei, superoxide anion, antioxidants, actin, creatine kinase, carbonic anhydrase-3, ubiquitin-proteasome system, redox-signalling pathways, inflammation and muscle structure, and damage were quantified in limb muscles of severe COPD patients with and without muscle wasting, and in sedentary controls. Compared with controls, in the quadriceps of muscle-wasted COPD patients, levels of protein carbonylation, oxidation of MyHC and myonuclei, superoxide anion production, superoxide dismutase, total protein ubiquinitation, E2(14k), atrogin-1, FoxO1 and p65 were higher, while content of MyHC, creatine kinase, carbonic anhydrase-3, myogenin, and fast-twitch fibre size were decreased. Importantly, in nonwasted COPD patients, where MyHC was more oxidised than in controls, its content was preserved. Muscle inflammation and glutathione levels did not differ between patients and controls. In all patients, muscle structure abnormalities were increased, while muscle force and exercise capacity were reduced. In severe COPD, while muscle oxidative stress increases regardless of their body composition, protein ubiquitination and loss of MyHC were enhanced only in patients exhibiting muscle atrophy. Oxidative stress does not seem to directly modulate muscle protein loss in these patients.     

Initial results of a new procedure for treatment of malignant obstruction of the left colon

PURPOSE: This study was undertaken to analyze the results obtained in 38 unselected patients using a new and original procedure for treatment of malignant obstructions of the left colon. METHOD: This procedure involves three phases: 1) resolution of the obstruction by means of a stem placed at the site of the tumor; 2) recovery of the general state of the patient, study of the extent of disease, and mechanical preparation of the colon; 3) regulated and final surgery (if this is not suitable, the stent may be used as definitive palliative treatment). RESULTS: In 35 patients (92 percent), the obstruction was resolved with the stent. In 22 patients the three phases were completed, and in 13 patients the stent constituted definitive palliative treatment. Only one patient (2.6 percent) died after resection of the tumor. CONCLUSION: This procedure offers a new, safe, and efficacious option for treatment of neoplastic colorectal obstructions.     

The issue of death and dying: employing problem-based learning in nursing education

Caring for dying patients can be an emotionally painful, distressing and sometimes threatening experience for nurses as the illness is incurable and death is imminent. The avoidance of discussion of dying in the presence of patients in Chinese culture further increases nurses' anxiety. The purpose of this article is to provide an example of how nurses can be helped when caring for dying patients by using a problem-based learning (PBL) approach in Hong Kong. The process and value of using PBL is discussed from the students' perspective. Students went through the PBL process and documented their learning throughout the course in journals. A total of 96 sets of journals were collected and analysed. The case analysis explored the perception of learning in the process of PBL. Three themes, related to nurses' attitudes and caring behaviours towards death and dying, have been derived from the findings. They were (a) increased self-awareness (b) positive attitudes towards death (c) providing culturally sensitive care. Problem-based learning as a pedagogical strategy for achieving learning in death and dying was well received. Problem-based learning was found to be a highly satisfactory method for enabling nurses to reflect on their own attitudes towards death and understanding of the emotional aspects of death and dying. Independent finding of information not only prompted nurses to find information from books and journals, but nurses also interviewed experts and patients for updated and experiential knowledge. Tutorials serve as a safe environment for discussion and sharing of feelings and information. The results definitely support PBL as an effective teaching strategy for nursing educators in the area of death education.     

Intrahepatic cholangiocarcinoma in a low endemic area: rising incidence and improved survival

Background

To explore trends in the incidence and survival of patients with intrahepatic cholangiocarcinoma (ICC) an unselected population in Western Europe was studied.

Methods

Between 1989 and 2009, all patients newly diagnosed with ICC were selected from the Netherlands Cancer Registry (n = 809). Trends in incidence, treatment and relative survival were calculated according to gender and age. Follow-up for vital status was complete until 1st January 2010.

Results

The incidence rates of ICC increased significantly between 1999 and 2009, especially in the age group 45–59 years [estimated annual percentage change +3.0%, 95% confidence interval (CI) 0.2–5.8]. In the other age groups ICC incidence remained stable. Patients diagnosed with Tumour Lymph Node Metastasis (TNM) stage I mainly underwent surgery (68%), and the majority of the patients with stage II, III and IV received best supportive care (73%). One-year relative survival for patients with ICC increased significantly from 24% in 1989–1994 to 28% in 2005–2009 (P = 0.03), and corresponding 3-year relative survival improved from 4% to 8% (P = 0.02). Three-month and 1-year relative survival for patients with ICC receiving surgery was 91% and 71%, respectively.

Discussion

Between 1999 and 2009, the incidence of ICC rose, especially in the age group 45–59 years, suggesting aetiological influences. Survival rates have improved during the study period.     

Managing the first period at home with a newborn: a grounded theory study of mothers’ experiences

Aim: The article aims to present a theoretical account of mothers’ first period at home with their newborn in Norway. Background: Mothers’ well‐being affects their babies and is therefore an important priority for public health. Early discharge after childbirth is common in many countries. In Norway, this has been practised for 5–10 years but without any distinct agreement between maternity hospitals and the community health services and without documented follow‐up care. Knowledge is lacking in how mothers deal with the first period at home with the baby. Method: Seven focus group discussions were conducted with 26 mothers who had babies 1.5–3 months old. The grounded theory method was used to gather and analyse data. Results: The mothers were strongly concerned about preserving their control and integrity in the new situation. This main concern was resolved by the strategy of prioritizing newborn care. The strategy encompassed a process of developing competence as a mother, changing focus in relationships, stretching to the critical level and seeking recognition. These parallel processes were inter‐related, sometimes mutually supportive and sometimes conflicting. When conflicts occurred, prioritizing newborn care guided mothers in finding solutions. Breaches of the implied conditions in health care tended to increase mothers’ level of strain and uncertainty and to influence their efficacy in breastfeeding the baby. Conclusion: Being a mother to a newborn is a dynamic and extensive process. Succeeding in breastfeeding seems especially sensitive and essential in motherhood. The idea that giving birth is a simple and normal situation may obscure the importance of seamless health care and the need for professional support and information.