Association of Shah-Waardenburgh syndrome: a review of 6 cases

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris.

Objective

The aim of the article is to study the relative frequency of associations in 6 consecutive cases of SWS.

Methods

A review of 6 consecutive patients with SWS was performed to study the frequency of various components of the syndrome.

Results

Six patients had features of SWS. All patients had HD; of these, 3 had rectosigmoid HD, whereas 3 had extended HD. All patients had white forelock of hairs with skin depigmentation. One patient had sensorineural deafness, whereas other babies were less than 1 year, and thus, full evaluation of hearing deficiency was not assessed. Three patients had blue eyes, whereas other babies had normal iris pigmentation. Skin depigmentation was noted in 5 of the 6 patients. Three babies were seriously malnourished and showed higher association of enterocolitis.

Conclusion

Shah-Waardenburg syndrome is an uncommon association of HD. Depigmentation with a white forelock and skin manifestations are common, whereas blue iris, long segment disease, and enterocolitis are present in nearly half of the patients.     

Synthesis and antimalarial activity of side chain modified 4-aminoquinoline derivatives

A new series of side-chain modified 4-aminoquinolines have been synthesized and found active against P. falciparum in vitro and P. yoelli in vivo. Compounds 6, 11, 12, and 19 exhibited superior in vitro activity compared to chloroquine. Selected compounds 6, 12, and 19 exhibited significant suppression in the in vivo assay. These analogs form a complex with hematin and inhibit the beta-hematin formation, suggesting that this class of compounds act on a heme polymerization target.     

Anatomically Anchored Template-Based Level Set Segmentation: Application to Quadriceps Muscles in MR Images from the Osteoarthritis Initiative

In this paper, we present a semi-automated segmentation method for magnetic resonance images of the quadriceps muscles. Our method uses an anatomically anchored, template-based initialization of the level set-based segmentation approach. The method only requires the input of a single point from the user inside the rectus femoris. The templates are quantitatively selected from a set of images based on modes in the patient population, namely, sex and body type. For a given image to be segmented, a template is selected based on the smallest Kullback–Leibler divergence between the histograms of that image and the set of templates. The chosen template is then employed as an initialization for a level set segmentation, which captures individual anatomical variations in the image to be segmented. Images from 103 subjects were analyzed using the developed method. The algorithm was trained on a randomly selected subset of 50 subjects (25 men and 25 women) and tested on the remaining 53 subjects. The performance of the algorithm on the test set was compared against the ground truth using the Zijdenbos similarity index (ZSI). The average ZSI means and standard deviations against two different manual readers were as follows: rectus femoris, 0.78 ± 0.12; vastus intermedius, 0.79 ± 0.10; vastus lateralis, 0.82 ± 0.08; and vastus medialis, 0.69 ± 0.16.     

Antibiotics in chronic suppurative otitis media: a bacteriologic study.

Conservative medical management of chronic suppurative otitis media (CSOM) is an important step in achieving a dry ear. Topical antibiotic ear drops and aural toilet form the mainstay of medical management of noncholesteatomatous CSOM. This study analyzes the causal organisms and their sensitivity to various antibiotics. Out of 382 swabs examined, the major organisms isolated were Pseudomonas aeruginosa (27.2%), followed by Staphylococcus aureus (23.6%). The sensitivity of P. aeruginosa was 100% to ceftazidime, 98.9% to ciprofloxacin, 96.3% to gentamicin, and 95.4% to polymyxin B, whereas the sensitivity of S. aureus was 98.6% to ciprofloxacin, 97.4% to cloxacillin sodium, 96.5% to cotrimoxazole, and 90.7% to gentamicin. Pseudomonas aeruginosa was almost completely resistant to ampicillin (97.6%) and chloramphenicol (96.6%), whereas S. aureus was almost completely resistant to ampicillin (73.8%) and polymyxin B (98.3%). Among the available topical antibiotic preparations for use in the ear, we found that ciprofloxacin and gentamicin are the best choices.     

Verapamil as a hypotensive agent under general anaesthesia

Thirty-six adult female patients undergoing abdominal hysterectomy under general anaesthesia were evaluated for the haemodynamic effects of IV verapamil in bolus dose of either 50 micrograms/kg (group A), 60 micrograms/kg (group B) or 75 micrograms/kg (group C). The result showed a dose dependent fall in the mean arterial pressure and increase in the P-R interval. The fall in heart rate was marginally more in group A and B as compared to group C.     

Current and lifetime psychiatric illness in women with Turner syndrome.

Abnormalities in quality of life and cognitive measures have been observed in women with Turner syndrome (TS), and a relationship between these phenomena and chromosomal constitution has been suggested. In contrast, few studies have systematically evaluated the presence of mood and behavioral syndromes in these women. In this study, 100 TS women were administered the Structured Clinical Interview for DSM IV after a two-week period during which their hormone replacement had been discontinued. The majority of women who met criteria for a psychiatric condition had a mood or anxiety disorder. Overall, 52 (52%) of the TS women met criteria for a current or a past depressive or anxiety disorder. Eighteen of the women with TS met criteria for a current Axis I psychiatric disorder [Depression--major (n = 5), minor (n = 5), dysthymia (n = 1); Anxiety (n = 9)]. Forty-six of the women with TS met criteria for a past Axis I psychiatric illness [Depression: unipolar (n = 41), bipolar (n = 3); Anxiety (n= 7); eating disorder (n =6); substance dependence (n = 3)]. Five women with TS met criteria for an Axis II personality disorder. Women with TS reported a higher rate of lifetime depression compared with rates observed in community-based studies but similar to those obtained from gynecologic clinic samples.     

Identification of NKIAMRE, the human homologue to the mitogen-activated protein kinase-/cyclin-dependent kinase-related protein kinase NKIATRE, and its loss in leukemic blasts with chromosome arm 5q deletion.

Human acute leukemia and myelodysplasia are often associated with an interstitial deletion in chromosome arm 5q. The deleted region is hypothesized to contain tumor suppressor loci that are critical to the maintenance of normal hematopoiesis. We have identified NKIAMRE, a novel cyclin-dependent kinase-related molecule that is closely related to the rat serine/threonine kinase NKIATRE. Human NKIAMRE localizes to chromosome band 5q31.1, centromeric to the interleukin 9 locus and telomeric to IFN response factor-1. NKIAMRE was deleted at both alleles in 9 of 18 leukemic samples with chromosome band 5q31 abnormalities studied by fluorescence in situ chromosomal hybridization. NKIAMRE loss may be an important determinant of dysmyelopoiesis.