Objective To identify gene mutations in two families with epidermolytic hyperkeratosis (EHK).Methods Clinical data were collected from two families with EHK.Peripheral blood was isolated from the probands and unaffected family members in the families as well as from 50 healthy controls.PCR was performed to amplify the encoding exons and flanking intron regions of KRT1 and KRT10 genes followed by direct DNA sequencing.Results Two mutations in the KRT10 gene,including a heterozygous acceptor splice site mutation in intron 4 (c.1030-2 A＞G) and a heterozygous missense mutation c.467 G＞A,were identified in the probands of both families,but absent in the unaffected family members or healthy controls.ConclusionThe splice site mutation c.1030-2 A＞G and missense mutation c.467 G＞A might be responsible for the phenotype of EHK in the two families.

OBJECTIVETo study the effect of different seminal rhizomes on the growth, quality and quantity of Curcuma longa root.

METHODSingle factor randomized block design was applied, plant samples were collected and investigated periodically, and dry weight, production and the main active ingredient content were measured.

RESULTThe difference seminal rhizomes affected the growth, quality and quantity of C. longa root.

CONCLUSIONThe bigger and stronger rhizomes should be chosen as seeds.

Biomass ; Curcuma ; growth & development ; Plant Roots ; growth & development ; Quality Control ; Rhizome ; growth & development

Objective:To investigate the clinical characteristics and surgical treatment of enteric Behcet′s disease with acute abdomen.Methods:The clinical data and follow-up results of 9 patients with enteric Behcet′s disease with acute abdomen treated surgically were analyzed retrospectively.Results:All patients in this group had abdominal pain, with bloody stool in one case, failure to exhaust and defecation in 1 case. Physical examination revealed abdominal mass in 2 cases, peritonitis sign in 5 cases and tenderness of the right lower abdomen in 1 case. The causes of operation were pathological perforation of ileocecal region, pathological perforation of small intestine, acute appendicitis, ileum fistula, intestinal stenosis and obstruction and massive hemorrhage of lower digestive tract.In this group, laparotomy or laparoscopy were done in these cases, including ileocecal resection in 2 cases, partial resection of small intestine in 3 cases, laparoscopic appendectomy in 1 case and right colon colectomy in 3 cases. Incision infection occurred in 1 case, anastomotic leakage in 1 case and adhesive intestinal obstruction in 1 case occurred after operation. The median follow-up time of 8 cases was 7.5 years, and Behcet′s disease recurred in 4 cases, but no recurrence of enteric Behcet disease was found.Conclusions:Intestinal perforation, bleeding and obstruction are the main causes of intestinal Behcet′s disease with acute abdomen, and emergency surgery is an important means of treatment, moreover, nutrition support and drug therapy are the important supportive therapy to control this disease.

Aged ; Breast Neoplasms ; complications ; Female ; Humans ; Skin Neoplasms ; diagnosis ; etiology