Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9-year-old boy, diagnosed with HIDS due to two novel mutations, c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene. The pathogenicity of these mutations was confirmed by measurement of low MVK enzyme activity in cultured primary skin fibroblasts of the patient. The symptoms have been refractory to therapy with steroids and non steroidal anti inflammatory drugs. This report expands the genetic and ethnic spectrum of HIDS.

Congenital Hypothyroidism (CH) is one of the most common preventable causes of mental retardation with a worldwide incidence of 1:4000 live births. Ideally universal screening at 3-4 days of age should be done for detecting CH. Abnormal values on screening (T4 < 6.5 ug/dL, TSH > 20 micro/L) should be confirmed by a venous sample (using age appropriate cutoffs) before initiating treatment. Term as well as preterm infants with low T4 and elevated TSH should be started on L-thyroxine at a dose of 10-15 microg/ kg/ day as soon as the diagnosis is made. Regular monitoring should be done to ensure that T4 is in the upper half of normal range. The outcome of CH depends on the time of initiation of therapy and the dose of L-thyroxine used with the best outcome in infants started on treatment before 2 weeks of age with a dose > 9.5 microg/ kg/ day.

AIM To describe the results of a combined procedure including phacoemulsification, insertion of posterior chamber intraocular lens (PCIOL) and pars plana vitrectomy (PPV) in eyes with vitreoretinal pathology and coexisting significant cataract. DESIGN Retrospective, consecutive, noncomparative, interventional case series. MATERIALS AND METHODS Medical records of patients who had undergone phacoemulsification, PPV and PCIOL implantation as a combined procedure between January 2000 and December 2004 were retrospectively reviewed. The main outcome measures were the anatomical success of retina, defined as reattached retina, intraoperative and postoperative complications and functional success in terms of final best corrected visual acuity. RESULTS In all, 65 eyes of 64 patients were included. The mean age of the patients was 50.9 years +/- 17.1 (range, five to 82 years). Vitreous hemorrhage with or without retinal detachment (19 eyes, 29.2%) was the most common indication for the vitreoretinal procedure. Primary anatomical success of retina was achieved in 59 eyes (90.7%). Visual acuity improved in 48 eyes (73.8%), was unchanged in 12 eyes (18.5%) and deteriorated in five eyes (7.7%). Postoperative inflammation was significantly more in the subgroup of previously vitrectomized eyes (42%)(P =0.014, Fisher exact test) compared to those which underwent primary vitrectomy. CONCLUSIONS Combined surgery is a feasible option for patients with vitreoretinal diseases and cataract.

We report a 25-year-old systemically healthy male who presented with periocular necrotizing fasciitis (NF) in the left eyelid. This was associated with the presence of immunologically mediated marginal kerato-conjunctivitis, in the same eye. This potentially dangerous lid infection and the associated ocular surface infection resolved successfully, with medical management. We report this case to highlight the successful conservative management of periocular NF and the hitherto unreported anterior segment involvement.

An 8-year-old girl presented with severe autoimmune hemolytic anemia (AIHA) in association with mediastinal widening. Biopsy of mediastinal lymph node confirmed the diagnosis of tuberculosis. A diagnosis of disseminated tuberculosis in association with AIHA was made, and the patient was treated with steroids and antitubercular therapy. This is the first report case of AIHA in association with childhood tuberculosis; we also discuss other reported cases of AIHA in association with adult tuberculosis in English literature.

Vitamin D deficiency with a resurgence of rickets and tetany are increasingly being reported in young infants from temperate regions, African Americans and also from India. The data on vitamin D status of healthy term breastfed Indian infants and mothers are scant. Therefore, we undertook this study to determine the prevalence of vitamin D deficiency and insufficiency [serum 25 hydroxyvitamin D (25OHD) ≤ 15 ng/ml and 15-20 ng/ml, respectively] among healthy term breastfed 3 month old infants and their mothers, evaluate for clinical and radiological rickets in those infants having 25OHD < 10 ng/ml, and check for seasonal variation and predictors of infants' vitamin D status. A total of 98 infants aged 2.5 to 3.5 months, born at term with appropriate weight and their mothers were enrolled; 47 in winter (November- January) and 51 in summer (April-June). Details of infants' feeding, vitamin D supplementation, sunlight exposure and mothers' calcium and vitamin D intake were recorded. Serum calcium, phosphate, alkaline phosphatase, 25 hydroxyvitamin D (25OHD) and parathormone were estimated. Vitamin D deficiency was found in 66.7 per cent of infants and 81.1 per cent of mothers; and insufficiency in an additional 19.8 per cent of infants and 11.6 per cent of mothers. Radiological rickets was present in 30.3 per cent of infants with 25OHD < 10 ng/ml. 25OHD did not show seasonal variation in infants but maternal concentrations were higher in summer [11.3 (2.5 - 31) ng/ml] compared to winter [5.9 (2.5-25) ng/ml, P=0.003]. Intake of vitamin supplement, sunlight exposure and mother's 25OHD were predictors of infants' 25OHD levels. Prevalence of vitamin D deficiency and insufficiency was found to be high in breastfed infants and their mothers, with radiological rickets in a third of infants with 25OHD < 10 ng/ml in this study. Studies with large sample need to be done in different parts of the country to confirm these findings.

HASH(0x10eaa100)

PURPOSE To compare intravitreal concentration (VC) of commercially available carboplatin (CAC) and the novel nanomolecule carboplatin (NMC), after periocular injection. METHODS The study was a comparative animal study involving 24 white Sprague-Dawley rats, aged between 6 weeks and 3 months. CAC was bound with a nanoparticulate carrier by co-acervation with a biocompatible and biodegradable protein BSA (bovine serum albumin). The particulate size, binding, and structure of the carrier was analyzed with dynamic light-scattering electron microscopy, FTIR (Fourier transform infrared) spectroscopy, and SDS-polyacrylamide gel electrophoresis. Twenty-four white rats were anesthetized. The right eye of each rat was injected with periocular CAC (1 mL) and the left eye with NMC (1 mL) by a trained ophthalmologist. Four mice each were euthanatized at days 1, 2, 3, 5, 7, 14, and 21 and both eyes were enucleated. The intravitreal concentrations of commercial carboplatin and nanomolecule carboplatin were determined with HPLC (high-performance liquid chromatography). Data were analyzed with the paired t-test. The main outcome measure was intravitreal concentrations CAC and NMC over time. RESULTS The NMC vitreal concentration was higher than the CAC concentrations in all animals, until day 7 (P = 0.0001). On days 14 and 21, the CAC vitreal concentration was higher than the NMC concentrations in all animals (P = 0.0002). Overall, the mean vitreal concentration of NMC was greater than CAC. CONCLUSIONS Nanoparticulate-bound carboplatin has greater transscleral transport than commercially available carboplatin, especially in the first week after injection and may help enhance the proven adjuvant efficacy of periocular carboplatin over and above systemic chemotherapy in treating human retinoblastoma, especially those with vitreal seeds. This trial is being published to establish a proof of principle for this method of therapy.

The purpose of this study was to report our experience of an attempted Descemet's stripping automated endothelial keratoplasty (DSAEK) in a patient with congenital hereditary endothelial dystrophy (CHED). A 7-year-old boy presented with the complaints of decreased vision in his right eye. The left eye had undergone penetrating keratoplasty at the age of 5 years. He was diagnosed as a case of CHED, and a DSAEK was planned for him. Due to technical difficulties during Descemet's membrane scoring and stripping and poor visualization, the procedure had to be abandoned and converted to a full thickness penetrating keratoplasty. To the best of our knowledge, this is the first reported case of an attempted DSAEK in a patient with CHED. Proper DSAEK case selection should include adequate visualization of the endothelium and anterior chamber. Severe stromal haze and edema may prevent necessary surgical observation during the procedure, and a full thickness penetrating keratoplasty may be required.

OBJECTIVE To study the link between fatness and gonadotropin secretion. Overweight status is linked to polycystic ovary syndrome (PCOS) in adolescents. We postulated that heavier adolescents without symptoms would secrete LH with:[1] increased pulse frequency (LHPF) and [2] exaggerated integrated concentrations (LHAUC). DESIGN Cross-sectional. SETTING General clinical research center. PATIENT(S) Eighty-seven postmenarcheal cyclic adolescents from lean to overweight recruited during the follicular phase. INTERVENTION(S) Luteinizing hormone sampling:[1] every 10 minutes/24 hours;[2] at 20-minute intervals after a GnRH challenge. MAIN OUTCOME MEASURE(S) The LHPF and LHAUC (calculated by the CLUSTER algorithm). Hormonal and metabolic covariates included percent body fat (PercentBF), insulin-like growth factor-I (IGF-I), fasting insulin, and the insulin resistance index HOMA-IR. The SAS software was used for analyses. RESULT(S) The PercentBF and younger gynecological age predicted faster LHPF. Fatness was negatively linked to LHAUC, which was best predicted by PercentBF and IGF-1 in multivariate modeling (R(2)= 0.25). The PercentBF and insulin predicted a lower 20-minute LH response to GnRH. CONCLUSION(S)[1] Higher adiposity and younger gynecological age predict rapid LHPF.[2] The early years after menarche represent a vulnerable window for an exaggerated LHPF with weight gain.[3] In healthy adolescents, higher adiposity is linked to lower LHAUC, thereby preserving pituitary stores.

We report a case of a 52-year-old female patient who developed overcorrection, due to brow overuse, post surgery for bilateral aponeurotic ptosis. The patient had undergone levator palpebrae superioris plication bilaterally. Due to brow overuse habituated by long standing ptosis, the patient presented with superior scleral show, post ptosis surgery. The lid contour was normal in both eyes and when brow overaction was blocked mechanically, the palpebral fissure heights were normal, comparable, with no scleral show bilaterally. Despite repeated instructions, when the patient continued brow overuse subconsciously, an injection of botulinum toxin was given just above both brows. This led to elimination of brow overuse within a month, with elimination of superior scleral show. The patient maintained lid and brow symmetry with no overaction, eight months post injection.