Measuring Vision With Temporally Modulated Stripes in Infants and Children with ROP

Purpose. To determine differences in preferential looking (PL) acuities using stationary and temporally modulated stripe patterns in patients with various stages of retinopathy of prematurity (ROP). Methods. We measured the PL acuities of 134 patients (ages 4 mo to 13 yr) with various stages of ROP. Patients were divided into six subgroups according to PL vision measured with stationary stripes: (1) equal to or better than 20/200 (n = 24); (2) worse than 20/200 to 20/400 (n = 10); (3) worse than 20/400 to 20/800 (n = 15); (4) worse than 20/800 to 20/1600 (n = 13); (5) worse than 20/1600 to 20/6400 (n = 26); and (6) worse than 20/6400 (n = 46; no stationary vision). Results. In the group with PL acuity equal to or better than 20/200, no difference in vision was apparent between the two methods. In patients with acuities worse than 20/200 to 20/400, the temporally modulated PL acuities were 0.23 octave better than the PL acuities measured with the stationary stripes. The difference increased to 0.86 and 1.12 octaves in the groups with visual acuities worse than 20/400 to 20/800 and worse than 20/800 to 20/1600, respectively. The difference in the group with PL acuities worse than 20/1600 to 20/6400 was 1.69 octaves. The 46 patients with no stationary vision detected only the temporally modulated stripes. Conclusions. The results suggest that the PL acuity difference between the temporally modulated and stationary stripes increases with visual impairment. Measuring PL acuity with temporally modulated stripes is an important addition to the evaluation of severely visually impaired subjects. Invest Ophthalmol Vis Sci. 1993;34:496-502. A he preferential looking (PL) test has been useful in clinical settings to evaluate vision in infants and young children. However, some patients with severe visual impairment cannot discriminate the lowest spatial freFrom. th

Study for estimation of stature from foot length in medico-legal autopsies (Study of 500 cases)

Background: Assessing the height of an individual, from measurements of different parts, has always been of immense interest to forensic medicine experts. The study of foot measurement in personal identification has obvious significance in forensic sciences. Having this idea in mind we did our project. Aims: Aim of the present study was to estimate stature from foot length of both side and compare the correlation coefficient in both sexes. Materials and methods: This study was carried out on 500 medico-legal autopsies which were brought to Forensic Medicine Department, M. P. Shah Govt. Medical College, Jamnagar during the period of August 2012 to June 2013. We took the height by standard measuring tap and foot length by sliding vernier calliper. Result: The stature of males varied in range of 150 to 188 cm with mean of 167 + 4.58 cm and in females in the range of 139 to 171 cm with mean of 154 + 4.7 cm. Right foot length in males varied in range of 20.12 to 28.9 cm and in females 19.1 to 24.4 cm. Left foot length in males varied in range of 20.4 to 29.1 cm and in females 19 to 24.36 cm. Correlation co-efficient for both foot in both males and females are > 0.7. Conclusion: Males were taller and have longer feet than females. There is very large correlation between height and foot length in both males and females. Correlation co-efficient for male for both foot are higher than females so, stature prediction from foot length is more accurate in males than females

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency

CONTEXT: It is estimated that 3-30% of cases with isolated GH deficiency (IGHD) have a genetic etiology, with a number of mutations being reported in GH1 and GHRHR. The aim of our study was to genetically characterize a cohort of patients with congenital IGHD and analyze their characteristics. PATIENTS AND METHODS: A total of 224 patients (190 pedigrees) with IGHD and a eutopic posterior pituitary were screened for mutations in GH1 and GHRHR. To explore the possibility of an association of GH1 abnormalities with multiple pituitary hormone deficiencies, we have screened 62 patients with either multiple pituitary hormone deficiencies (42 pedigrees), or IGHD with an ectopic posterior pituitary (21 pedigrees). RESULTS: Mutations in GH1 and GHRHR were identified in 41 patients from 21 pedigrees (11.1%), with a higher prevalence in familial cases (38.6%). These included previously described and novel mutations in GH1 (C182X, G120V, R178H, IVS3+4nt, a>t) and GHRHR (W273S, R94L, R162W). Autosomal dominant, type II IGHD was the commonest form (52.4%), followed by type IB (42.8%) and type IA (4.8%). Patients with type II IGHD had highly variable phenotypes. There was no difference in the endocrinology or magnetic resonance imaging appearance between patients with and without mutations, although those with mutations presented with more significant growth failure (height, -4.7 +/- 1.6 SDS vs. -3.4 +/- 1.7 SDS) (P = 0.001). There was no apparent difference between patients with mutations in GH1 and GHRHR. CONCLUSIONS: IGHD patients with severe growth failure and a positive family history should be screened for genetic mutations; the evolving endocrinopathy observed in some of these patients suggests the need for long-term follow-up

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Item does not contain fulltextCongenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. IGSF1 is a membrane glycoprotein that is highly expressed in the anterior pituitary gland, and the identified mutations impair its trafficking to the cell surface in heterologous cells. Igsf1-deficient male mice show diminished pituitary and serum thyroid-stimulating hormone (TSH) concentrations, reduced pituitary thyrotropin-releasing hormone (TRH) receptor expression, decreased triiodothyronine concentrations and increased body mass. Collectively, our observations delineate a new X-linked disorder in which loss-of-function mutations in IGSF1 cause central hypothyroidism, likely secondary to an associated impairment in pituitary TRH signaling