Familial hypobetalipoproteinemia. Familial study of 4 cases

A familial study of four cases with hypobetalipoproteinemia is reported. Three members are heterozygous and one is homozygous. This congenital fat malabsorption in homozygous state is commonly associated with an absence of serum apoprotein B and LDL. Neuromuscular and ophthalmological signs are absent in this case. The major role of upper digestive endoscopy in the diagnostic procedure is emphasized. Histochemical and immunoenzymatic stains of enterocytes and intestinal organ culture show defective synthesis apo B in the homozygous patient. Studies of DNA polymorphism in the homozygous patient have shown that the apo B gene doesn't certain major insertions or deletions. These results are discussed.     

Do diabetologists recognise self-management problems in their patients?

OBJECTIVE: The aim of this study was to determine whether diabetologists recognise patients' needs for additional intensive multidisciplinary care due to glycaemic and diabetes-related psychosocial difficulties. RESEARCH DESIGN AND METHODS: We compared 114 participants in a diabetes intervention programme with 201 as yet non-referred outpatients, of whom 54 outpatients were considered eligible for the intervention by their diabetologists; thus, 147 outpatients were considered non-eligible. RESULTS: Analysis revealed that the eligible patients had poorer glycaemic control but all other parameters were similar to non-eligible patients. Significantly, 22 (15%) of the 147 non-eligible patients clearly had diabetes distress and could potentially benefit from the intervention. CONCLUSION: The results suggest that in regular care, patients' needs with respect to glycaemic control are recognised by their diabetologists, but patients with high psychosocial diabetes-related distress are often overlooked, though they also may be in need of additional care. Integrated monitoring of diabetes-related distress in outpatients could improve this area of diabetes care.     

Deviant Strategy on the Modified Six Elements Test in Patients with Schizophrenia

Impaired executive functioning is found in a considerable proportion of schizophrenia patients. Neuropsychological tests are originally designed to measure the behavior of neurological patients and may therefore miss psychiatry-related cognitive deficits. Qualitative information on tests for executive functioning is important in psychiatric populations. The Modified Six Elements Test (MSET) is a planning test that consists of 6 tasks, for which subjects have limited time and have to obey to switching rules. This study concerns a qualitatively different approach schizophrenia patients use on the MSET, and its relationship with cognitive measures. MSET scores and strategies of schizophrenia patients were compared to those of healthy controls, closed-head-injury patients, and peripheral injury patients. Also, schizophrenia patients and healthy controls were compared on verbal memory and vigilance. Schizophrenia patients finish fewer assignments on the MSET, receive a lower profile score compared to healthy controls, and use a different strategy on the test compared to the other groups. They also perform below healthy controls on the tests for verbal memory and vigilance. Use of the different strategy in schizophrenia patients was related to impaired cognitive functioning. An interesting strategy used by schizophrenia patients on the MSET appears to be indicative of impaired cognitive functioning. This strategy may be a compensatory strategy to spare cognitive resources. It could also be the result of a concrete interpretation of the test instructions.     

Nodding syndrome in Mundri county,South Sudan: environmental,nutritional and infectious factors

Background

Nodding Syndrome is a seizure disorder of children in Mundri County, Western Equatoria, South Sudan. The disorder is reported to be spreading in South Sudan and northern Uganda.

Objective

To describe environmental, nutritional, infectious, and other factors that existed before and during the de novo 1991 appearance and subsequent increase in cases through 2001.

Methods

Household surveys, informant interviews, and case-control studies conducted in Lui town and Amadi village in 2001–2002 were supplemented in 2012 by informant interviews in Lui and Juba, South Sudan.

Results

Nodding Syndrome was associated with Onchocerca volvulus and Mansonella perstans infections, with food use of a variety of sorghum (serena) introduced as part of an emergency relief program, and was inversely associated with a history of measles infection. There was no evidence to suggest exposure to a manmade neurotoxic pollutant or chemical agent, other than chemically dressed seed intended for planting but used for food. Food use of cyanogenic plants was documented, and exposure to fungal contaminants could not be excluded.

Conclusion

Nodding Syndrome in South Sudan has an unknown etiology. Further research is recommended on the association of Nodding Syndrome with onchocerciasis/mansonelliasis and neurotoxins in plant materials used for food.     

Personal barriers to antiretroviral therapy adherence: case studies from a rural Uganda prospective clinical cohort

Background

Although good adherence to antiretroviral therapy (ART) is essential for successful treatment outcomes, some patients may have specific personal barriers to ART adherence.

Objectives

To study specific personal barriers to ART adherence.

Methods

Quantitative data on patients'' health status, ART adherence, CD4 cell counts and viral loads were collected, and qualitative data on life experiences of five patients with poor ART outcomes and adherence were also collected.

Results

Out of 35 patients with poor immunological and virological ART outcomes, 17 (49%) also had poor ART adherence. Patient 1 had no living child and did not disclose her HIV serostatus to her spouse because she wanted to have a child. Patient 2 was an orphan with neither social nor family support. Patient 3 stopped ART when she conceived, returned to the study clinic when pregnant again and was sickly. She was switched to second-line ART with satisfactory outcomes. Patient 4, a 14 year old orphan had missed ART for 2 months when his treatment supporter was away. Patient 5 aged 66 years stopped ART which he blamed for his erectile dysfunction.

Conclusion

ART adherence counselling should target specific personal barriers to ART adherence like: lack of family support, health and sexual life concerns, desire to have children and family instability.     

Quality of life related to oral function in edentulous head and neck cancer patients posttreatment

PURPOSE: Surgical treatment of malignancies in the oral cavity and subsequent radiotherapy often result in an oral condition unfavorable for prosthodontic rehabilitation. This study assessed the quality of life related to oral function in edentulous head and neck cancer patients following oncology treatment of malignancies in the lower region of the oral cavity. MATERIALS AND METHODS: Patients treated between 1990 and 2000 with surgery and radiotherapy for a squamous cell carcinoma in the oral cavity who were edentulous in the mandible and had been treated with a conventional, non-implant-retained denture received an invitation for a clinical check-up (clinical assessment, questionnaires regarding oral function and quality of life). RESULTS: Sixty-seven of the 84 patients who fulfilled the inclusion criteria were willing to participate in the study. The mean irradiation dosage that these patients had received in the oral region was 61.8 +/- 5.4 Gy. Half of the patients (n=33) were not very satisfied with their prostheses; they wore their mandibular prostheses at most a few hours per day. It was concluded from the clinical assessment that two thirds of the patients (n 4) could benefit from an implant-retained mandibular denture. Analyses of the questionnaires revealed no significant associations between functional assessments, quality of life, and parameters such as size of the primary tumor, location of the primary tumor, and different treatment regimes. Despite cancer treatment, the patients reported a rather good general quality of life. CONCLUSIONS: Sequelae resulting from radiotherapy probably dominate oral function and quality of life after oncology treatment. In two thirds of the patients, improvement of oral function and related quality of life would be expected with the use of an implant-retained mandibular denture.