Ataxia-Telangiectasia: A Case Report and a Brief Review.

Ataxia-telangiectasia (A-T) is a rare inherited syndrome that primarily presents as ataxia due to cerebellar involvement and dilated capillaries in the oculocutaneous region. But many more serious complications of the condition exist, due to which both the quality and length of life are severely affected. Some of these include opportunistic infections due to an abnormal immune system, various malignancies, and an increased sensitivity to ionizing radiation. Due to the involvement of multiple systems in the body, diagnosis of this condition could be tricky as it may manifest with uncommon signs like dystonic head movements seen in our case. We have presented the case of a 16-year-old male born out of a consanguineous marriage, with the major symptoms of walking difficulties, frequent falls, and jerky movements of the head. Similar or related complaints had been noted in the past in his siblings. Laboratory investigations revealed elevated levels of serum alpha-fetoprotein, while the confirmatory diagnosis was made by genetic testing of the ataxia-telangiectasia mutated (ATM) gene. The patient was treated with amantadine and clonazepam, along with speech therapy, but the prognosis remained poor due to the lack of curative treatment for A-T.

Aspirin for Prophylaxis Against Venous Thromboembolism After Orthopaedic Oncologic Surgery.

BACKGROUND: Patients who undergo orthopaedic oncologic surgical procedures are at increased risk of developing a venous thromboembolism (VTE). Guidelines from surgical societies are shifting to include aspirin as a postoperative VTE prophylactic agent. The purpose of this study was to review our experience using aspirin as postoperative VTE prophylaxis for orthopaedic oncologic surgical procedures. METHODS: This study was a retrospective review of patients diagnosed with a primary malignant soft-tissue or bone tumor or metastatic carcinoma. Demographic information, histopathologic diagnosis, VTE history, surgical procedure, and VTE prophylaxis were analyzed. VTE rates in the overall and prophylactic-specific cohorts were recorded and compared. RESULTS: A total of 142 distinct surgical procedures in 130 patients were included. VTE prophylaxis with aspirin was used after 103 procedures, and non-aspirin prophylaxis was used after 39. In 33 cases, imaging was used to investigate for VTE because of clinical signs and symptoms. VTE developed after 7 (4.9%) of the 142 procedures. There were 6 deep venous thromboses (DVTs) and 1 pulmonary embolism, and 2 of the VTEs presented in patients with a VTE history. VTE developed in 2.9% (3) of the 103 aspirin cases and 10.3% (4) of the 39 non-aspirin cases. No patient in the aspirin group who had been diagnosed with metastatic carcinoma, malignant soft-tissue sarcoma, lymphoma, or multiple myeloma developed a VTE. Risk factors for VTE development included diabetes mellitus (odds ratio [OR] = 10.40, 95% confidence interval [CI] = 1.61 to 67.30), a history of VTE (OR = 7.26, 95% CI = 1.19 to 44.25), postoperative transfusion (OR = 34.50, 95% CI = 3.94 to 302.01), and estimated blood losses of 250 mL (OR = 1.50, 95% CI = 1.11 to 2.03), 500 mL (OR = 2.26, 95% CI = 1.23 to 4.13), and 1,000 mL (OR = 5.10, 95% CI = 1.52 to 17.04). CONCLUSIONS: Aspirin may be a suitable and effective option for VTE chemoprophylaxis in patients treated with orthopaedic oncologic surgery, especially those diagnosed with a soft-tissue sarcoma. Research with a more advanced study design is required. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.

The Evolution of Private Plans in Medicare.

Issue: Since the 1980s, private plans have played an increasingly important role in the Medicare program. While initially created with the goals of reducing costs, improving choice, and enhancing quality, risk-based plans--now known as Medicare Advantage plans--have undergone significant policy changes since their inception; these changes have not always aligned with the original policy objectives. Goal: To examine major policy changes to Medicare risk plans and the effects of these policies on plan participation, enrollment, average premiums and cost-sharing, total costs to Medicare, and quality of care. Methods: Review of key policy documents, reports, position statements, and academic studies. Findings and Conclusions: Private plans have changed considerably since their introduction into Medicare. Enrollment has risen to 33 percent of all Medicare beneficiaries; 99 percent of beneficiaries have access to private plans in 2017. Recent policies have improved risk-adjustment methods, rewarded plans' performance on quality of care, and reduced average payments to private plans to 100 percent of traditional Medicare spending. As enrollment in private plans continues to grow and as health care costs rise, policymakers should enhance incentives for private plans to meet intended goals for higher-quality care at lower cost.

Variation in Quality of Care among Virtual Urgent Care Providers.

Key findings. (1) Significant variation in quality was found among companies providing virtual visits for management of common acute illnesses. (2) Variation in the performance of the telemedicine companies differed by condition. Specifically, variation across websites was significantly greater for viral pharyngitis and acute rhinosinusitis than for streptococcal pharyngitis, low back pain, ankle pain, and recurrent urinary tract infection. (3) Mode of communication (videoconference, telephone, or webchat) had no statistically significant effect on completeness of history and physical examination or adherence to key management decision guidelines. However, videoconference and telephone consultations were statistically superior to webchat for making the correct diagnosis.

Factors associated with consumption of diabetic diet among type 2 diabetic subjects from Ahmedabad, Western India.

This cross-sectional study assessed the current situation of and factors associated with consumption of diabetic diet among 399 type 2 diabetes mellitus (T2DM) subjects from Ahmedabad, Western India. The study was performed with diagnosed (at least one year old) diabetic subjects who attended the Department of Diabetology, All India Institute of Diabetes and Research and Yash Diabetes Specialties Centre (Swasthya Hospital), Ahmedabad during July 2010-November 2010. The subjects completed an interviewer-administered questionnaire. The questionnaire included variables, such as sociodemographic factors, family history of diabetes, behavioural profile, risk profile (glycaemic status, hypertension, and obesity), and diet-related history (consumption of diabetic diet, consumption of low fat/skimmed milk, method of cooking, and sources for diet advice). Blood pressure, body mass index, glycosylated haemoglobin (HbA1c) level, and fasting lipid profile were measured. All analyses including multivariate logistic regression were conducted using SPSS, version 11.5. In total, 399 T2DM subjects (65% male, 35% female) with mean age of 53.16 +/- 7.95 years were studied. Although 73% of T2DM subjects were consuming diabetic diet, the good glycaemic control (HbA1c level < 7%) was achieved only in 35% of the subjects. The majority (75%) of the subjects had a positive family history of diabetes, and 52% were obese. In 77%, the main source of dietary advice was doctor. In 36%, the main methods of cooking were: boiling and roasting. The final multivariate model showed that visit to dietician, level of education, intake of low fat, and family history of diabetes were independent predictors for diabetic diet consumption among T2DM subjects. However, longitudinal and cohort studies are required to establish the association between consumption of diabetic diet and glycaemic control.

A hospital-based observational study of type 2 diabetic subjects from Gujarat, India.

The aim of this observational study was to describe the profile of subjects with type 2 diabetes mellitus from Gujarat, India. The study was performed with newly-diagnosed 622 type 2 diabetic subjects who attended the Department of Diabetology, All India Institute of Diabetes and Research and Yash Diabetes Specialties Centre (Swasthya), Ahmedabad, during August 2006-January 2009. The subjects completed an interviewer-administered questionnaire. The questionnaire included variables, such as sociodemographic factors, presenting symptoms, risk profile (hypertension, obesity, dyslipidaemia, and glycaemic status), family history of diabetes, physical activity, and behavioural profile. Blood pressure, body mass index (BMI), glycosylated haemoglobin levels, and fasting lipid profile were measured. Descriptive and bivariate analyses were carried out using the SPSS software (version 11.5). In total; 622 type 2 diabetes mellitus (T2DM) cases with mean age of 47.7 +/- 10.9 years were studied. Of the 622 subjects, 384 (62%) were male. The majority (68%) of the T2DM subjects were obese, and 67% had a positive family history of diabetes. Renal dysfunctions and vision impairment were, respectively, found in 10% (n=62) and 9% (n=57) of the 622 T2DM subjects. The mean HbAlc level was 9.02 +/- 1.67%, and good glycaemic control (HbAlc level <7%) was achieved only in 7.4% of the T2DM subjects. Results of chi-square analysis showed that higher BMI (> or =25 kg/m2) was significantly associated with hypertension among the T2DM subjects (p < 0.01). There were significant differences (p < 0.05) between male and female subjects with respect to mean age, BMI, waist- and hip-circumference, and mean low-density lipoprotein (LDL) level. The results revealed that many factors, such as obesity, family history of diabetes, dyslipidaemia, uncontrolled glycaemic status, sedentary lifestyles, and hypertension were prevalent among the T2DM subjects. The characterization of this risk profile will contribute to designing more effective and specific strategies for screening and controlling T2DM in Gujarat, India.