An unusual cause of adult onset cerebellar ataxia with hypogonadism

We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia.     

Tubercular pseudoaneurysm of aorta: a rare association with vertebral tuberculosis.

BACKGROUND CONTEXT: Pseudoaneurysm of the aorta in association with vertebral tuberculosis is a rare phenomenon. With the resurgence of human immunodeficiency virus (HIV) and associated resistant tuberculosis, this life-threatening complication requires greater awareness. PURPOSE: Our purpose is to report the rare presentation and successful management of tubercular pseudoaneurysm of the aorta in association with vertebral tuberculosis, and to highlight the clinicoradiological features for early and prompt diagnosis of this potentially fatal, but treatable, disease. STUDY DESIGN: A single case report and overview of the disease comprises the design of this study. PATIENT SAMPLE: The patient, already surgically intervened, is a 27-year-old male with increasing abdominal and back pain, upper motor neuron signs, and constitutional signs and symptoms. OUTCOME MEASURES: At 33 months follow-up, there is complete resolution of the signs and symptoms, and the patient is back to his previous vocation. METHODS: The diagnosis was confirmed by magnetic resonance imaging and contrast computed tomography. Endoaneurysmorrhaphy of the pseudoaneurysm along with a complete course of antitubercular treatment was given to the patient, and he has presently been followed up for 33 months. RESULTS: The patient's signs and symptoms have been completely resolved without any recurrence. CONCLUSION: Despite the use of modern chemotherapy and imaging techniques, this disastrous complication still occurs and reinforces the need for early suspicion, diagnosis, surgical resection, and antitubercular therapy along with close postoperative follow-up to prevent recurrence. With the resurgence of HIV (and other immunocompromised states) associated and resistant tuberculosis, we should be more alert than ever to this life-threatening complication.     

National audit of incontinence surgery in the United Kingdom.

The aim of the study was to describe the experience, current trends and management of incontinence surgery for urodynamic stress incontinence (USI) in the United Kingdom. The study was a postal questionnaire survey that was sent to a cohort of surgeons known to be performing continence surgery. The subjects addressed included the considered role of the surgeon, the total number and type of operations performed in the last year, urodynamics and physiotherapy prior to incontinence surgery, operative complications, postoperative advice and follow-up (lengths and methods). The response rate was 54%. Large variations were found in all areas. The survey provides evidence of the number of incontinence operations performed, potentially important trends and differences in the practice and management of incontinence in the United Kingdom. This survey may be helpful in making guidelines and standards for audit at regional, local and individual levels as well as recommendations for strategies to enhance professional expertise in urogynaecology in the United Kingdom.     

Effects of periodic weight support in a simulated weightless environment in preventing bone demineralisation.

Anti Orthostatic Hypokinetic posture in rats by tail suspension for 15 days (d) simulates the deconditioning effects of weightlessness on the weight bearing bones. The present study evaluates the effects of daily 4 hour (h) weight support (WS) during simulated weightlessness (S-W) in preventing these changes. Adult male albino rats were divided into three groups as (i) Control (CON, n = 12), (ii) Hind limb unweighing by tail suspension for 15 d (HU, n = 18), (iii) HU with daily 4 h WS (4 HRWS, n = 11). After 15 d tibia from all the animals were removed and subsequently dried, ashed and then calcium content of the bones were determined. HU showed reductions in the water content by 35.8%, organic matrix by 12.2% and calcium content by 33.4% of tibia. 4 h WS during S-W resulted in complete prevention of water loss and organic matrix loss and partial prevention of the loss of calcium content. Calcium content of tibia in 4 HRWS remained 15.2% less as compared to CON. These findings indicate that 4 h WS is partially successful in preventing the demineralisation effects of S-W on weight bearing bone tibia.     

Aspergillus Iris Granuloma: A Case Report with Review of Literature

We report the case of a 25-year-old male patient who presented with complaints of redness, photophobia, and decreased vision in the right eye of a week's duration. Slit-lamp biomicroscopic examination revealed a cream-colored, irregular elevated inferior iris mass, extending on to the anterior lens surface. Differential diagnoses of a fungal granuloma, a medulloepithelioma, and an amelanotic melanoma were considered. An excisional biopsy of the mass was performed through a superior clear corneal incision. Polymerase chain reaction analysis of the aqueous humor showed a positive pan fungal genome. Histopathology of the biopsied mass showed a giant cell granuloma with surrounding numerous branching, septate hyphae. Culture growth revealed Aspergillus fumigatus We report this case because of the rarity of Aspergillus iris granuloma as a primary presentation of endogenous Aspergillosis and review the relevant literature. Absence of a significant systemic history compounded the diagnostic dilemma in our patient. Definitive differentiation of this rare entity from a foreign body, amelanotic melanoma, and other inflammatory conditions such as sarcoidosis and tuberculosis, may be possible only on microbiological and histo-pathological evaluation.     

Patient experience with, and use of, an electronic monitoring system to assess vaccination responses

OBJECTIVE: To evaluate the user experience and acceptability of an electronic patient monitoring system. SETTING AND PARTICIPANTS: 822 Military and civilian personnel at a health clinic at a major US military headquarters used an Internet and telephone-based electronic monitoring system to report vaccination-site responses and symptoms after receiving the smallpox vaccination. Focus groups of vaccinees were conducted to help develop a survey about the experience that was distributed to 379 vaccinees (96% completion rate). RESULTS: Users of the electronic monitoring system reported that it was fast and easy to use and reported they would use a system like this again and recommend an electronic monitoring system to a friend or relative. Most users (84%) were comfortable with a physician tracking their vaccine reaction using their electronic reports, but only half (51%) were comfortable with eliminating the post-vaccination follow-up visit with their health-care provider based on their electronic reports. CONCLUSIONS: This electronic monitoring system was well received by vaccinees and allowed health-care providers to track the status of vaccinees. However, vaccinees were not comfortable replacing a physician visit with electronic monitoring, at least for the smallpox vaccination. A monitoring system like this may be useful in public health settings, such as mass vaccination or prophylaxis during a bioterrorism event, a pandemic influenza outbreak, or another public health emergency.     

Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.