膨润土对药用混悬液助悬性能的考察

本文报道了无机胶体膨润土(Bentonite)作为助悬剂在炉甘石洗剂中的应用,并与有机助悬剂及另一种无机胶体XVT—M进行比较,显示了其优异的助悬性能。     

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients

INTRODUCTION—Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene. To date, 13 different cathepsin C mutations have been reported in PLS patients, all of which are homozygous for a given mutation, reflecting consanguinity.
AIM—To evaluate the generality of cathepsin C mutations in PLS, we studied an ethnically diverse group of 20 unrelated families.
METHODS—Mutations were identified by direct automated sequencing of genomic DNA amplified for exonic regions and associated splice site junctions of the cathepsin C gene. Long range PCR was performed to determine the genomic structure of the cathepsin C gene.
RESULTS—The cathepsin C gene spans over 46 kb, with six introns ranging in size from 1.6 to 22.4 kb. Eleven novel mutations and four previously reported mutations were identified in affected subjects from 14 families. Missense mutations were most common (9/15), followed by nonsense mutations (3/15), insertions (2/15), and deletions (1/15). Among these 14 probands, two were compound heterozygotes. Affected subjects with transgressions of the dermal lesions onto the knees or elbows or both had mutations in both the pro- and mature regions of the enzyme, although most were in the mature region.
CONCLUSION—Mutations in the mature region of cathepsin C were more likely to be associated with the transgressions of the dermatological lesions, although the results were not statistically significant. A comprehensive list of all cathepsin C mutations described to date, representing 25 mutations from 32 families with PLS and related conditions, is also presented.


Keywords: cathepsin C; genetics; severe early onset periodontitis; hyperkeratosis     

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13.3), TUFT1 (1q21), MMP20 (11q22.3-q23), and KLK4 (19q13). Genotype data were evaluated to identify homozygosity in affected individuals. Mutational analysis was by genomic sequencing. Homozygosity linkage studies were consistent for localisation of an AI locus in three families to the chromosome 4q region containing the ENAM gene. ENAM sequence analysis in families identified a 2 bp insertion mutation that introduced a premature stop codon in exon 10. All three probands were homozygous for the same g.13185_13186insAG mutation. These probands presented with a generalised hypoplastic AI phenotype and a class II openbite malocclusion. All heterozygous carriers of the g.13185_13186insAG mutation had localised hypoplastic enamel pitting defects, but none had AI or openbite. The phenotype associated with the g.13185_13186insAG ENAM mutation is dose dependent such that ARAI with openbite malocclusion segregates as a recessive trait, and enamel pitting as a dominant trait.     

Clinical and ethical perspective of neurosurgical care in patients from beyond the southern border of Turkey: challenges of patients in war

Journal of Public Health - Because an increasing number of patients travel internationally to seek medical care, Turkey offers comprehensive and outstanding services under extraordinary conditions...     

ASO Visual Abstract: Robotic Posterior Retroperitoneal Adrenalectomy: Patient Selection and Long-Term Outcomes

Annals of Surgical Oncology -     

Sertoli cell tumor in a prepubertal boy mimicking testicular torsion

A 9-year-old boy presented with left, intermittent testicular pain that was present for 3 days. On physical examination, left testis was grossly enlarged and firm but mildly tender. Serum alpha-fetoprotein and beta-human chorionic gonadotropin levels were within normal range. Color doppler ultrasonography which was performed to rule out testicular torsion revealed an intratesticular mass located at the upper pole of left testis and left radical orchiectomy was performed. The histopathological diagnosis was Sertoli cell tumor.     

Parental involvement and spousal satisfaction with division of early childcare in Turkish families with normal children and children with special needs

In this low-income Turkish sample, parents reported on father and mother division of childcare labor and satisfaction with division. Regardless of whether they were rearing typical or atypical children, mothers reported a higher level of involvement than fathers in every domain of childcare. In general, both mothers and fathers reported slight dissatisfaction with their own level of participation in childcare. Across groups, all mothers were significantly more dissatisfied (than their spouses were with their level of participation) with the fathers' level of participation in childcare. Best predictors of parental involvement were parent's employment status, satisfaction with partner level of involvement, and parent educational level.     

Multiple Perforations along the Entire Colon as a Complication of Intestinal Behcet's Disease: A Rare Case

Colonic complications of Behcet''s disease due to intestinal involvement are rarely reported in the literature. Ulcers are the most frequently seen intestinal complications that cause bleeding and perforation predominantly in the ileocecal region. In this article, we report a patient with Behcet''s disease who presented with multiple perforations along the entire colon. Postoperative histopathological examination revealed multiple ulcers containing lymphocytic infiltrations in the small peripheral and submucosal venules. Intimal thickening and fresh intraluminal fibrin thrombosis were also seen in these venules.