A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan's syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.

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ContextNoncompliance with thyroxine therapy is the most common cause of poor control of hypothyroidism. An open-label prospective study to compare once-weekly thyroxine (OWT) with standard daily thyroxine (SDT) was undertaken.DesignPatients taking thyroxine doses of >3 μg/kg/d, with or without normalization of TSH, were included and administered directly observed OWT or nonobserved SDT according to patient preference based on their weight for 6 weeks. Furthermore, patients on OWT were advised to continue the same at home without supervision.ResultsTwenty six of 34 patients on OWT and 7 of 18 patients on SDT achieved a TSH <10 μIU/mL (P < 0.05), and 2 patients from the SDT arm were lost to follow-up. During home treatment, 15 of 25 at 12 weeks and 19 of 23 contactable patients at a median follow-up of 25 months maintained TSH below target. Thyroxine absorption test was unable to predict normalization of TSH at 6 weeks of OWT therapy. No adverse events were seen with OWT-treated patients over the 12-week follow-up period. OWT has significantly higher efficacy (OR = 5.1) than SDT for patients with thyroxine-resistant hypothyroidism and is not associated with side effects.ConclusionOWT benefits a majority of patients in the long-term treatment of thyroxine-resistant hypothyroidism, in the real-world setting.

Introduction:Dipeptidyl peptidase 4 (DPP4) inhibitors are attractive agents to be used in the elderly patients with Type 2 diabetes mellitus (T2DM) because of their beneficial effects.Methods:In this cross-sectional, observational study, we evaluated and compared the treatment satisfaction using Diabetes Treatment Satisfaction Questionnaire (DTSQ) in two groups (i.e., regimens containing DPP4 inhibitors vs. other regimens). Efficacy was evaluated by assessing and comparing the glycosylated hemoglobin (HbA1c) values and the percentage of patients who achieved the glycemic control (HbA1c <7%). The adverse drug reactions (ADRs) were also recorded and compared among two groups.Results:A total of 115 patients participated in the study (42 in Group 1 and 73 in Group 2). Significantly better DTSQ scores were observed among Group 1 patients in terms of DTSQ score total (P = 0.01) and DTSQ score for perception of hyperglycemia (P = 0.008) as compared to Group 2 patients. Significant difference was observed in HbA1c values among two groups (P = 0.02, 95% confidence interval [CI], 0.06–1.14). Also, significantly higher proportion of patients had achieved glycemic control, i.e., HbA1c <7% in Group 1 as compared to Group 2 (P = 0.002, 95% CI, 11.8%–48.1%). Significantly higher number of ADRs were observed among Group 1 patients as compared to Group 2 (P = 0.003).Conclusion:DPP4 inhibitors seem to offer better treatment satisfaction and efficacy in geriatric T2DM patients but at the expense of increased frequency of ADRs; however, further research is warranted.

BACKGROUND: Alopecia areata is an autoimmune condition with a worldwide occurrence. It usually presents as patchy, non-scarring hair loss. There is a paucity of clinical data in Indians. OBJECTIVES: To study the clinical profile and to know the association with various systemic and dermatological disorders. METHODS: A descriptive study was conducted on 100 cases of alopecia areata after taking informed consent, over a period of 16 months from December 2012 to April 2014. A detailed history of the patient regarding associated systemic and dermatological disorders and various autoimmune disorders were documented, relevant investigations were done. RESULTS: Incidence of alopecia areata in patients attending dermatology out-patient department was 1.7%. There was slight male preponderance (51%). Most common age group involved was 20-40yrs. (47%). Alopecia areata was higher among low socioeconomic group (62%). Recurrences of AA was noted in 14% of cases. Stress acting as triggering factor in 12%. Pregnancy and postpartum accounted for 4% of cases. Atopic dermatitis was noted in 1%, seborrheic dermatitis was noted in 1%, lichen planus was noted in 2%, psoriasis noted in 1% cases. Average age of onset of alopecia areata in atopics was 7.9 years. Occiput was the most common site accounting for 39.3% of cases. Nail pitting was noted in 7% of cases. In 2 cases 20 nail dystrophy was noted. Patchy type was the most common type of alopecia seen in 73% of patients. As per IKEDAS classification -71% cases belonged to common type, 18% to atopic type, 5% to pre hypertensive, 6% to autoimmune type. Bronchial asthma was noted in 3%, Diabetes mellitus in 5%, hypothyroidism noted in 12% of cases.