Objective To explore the role of type Ⅶ collagen (COL7A1) gene in the pathogenesis of pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt).Methods Peripheral blood samples were obtained from a sporadic Chinese patient of Han nationality with DDEB-Pt,his parents and 100 healthy human controls.A modified salting-out method was used to extract genomic DNA from the blood samples,and PCR was performed to amplify 118 exons of the COL7A1 gene followed by DNA sequencing.Results A G→A mutation was identified at position 6109 (G6109A) in exon 78 of the COL7A1 gene in this patient,which caused a change from GCT to ACT at codon 2037 in the triple helix region,and resulted in the substitution of glycine (Gly) by arginine (Arg) (p.Gly2037Arg).Conclusion A novel glycine substitution mutation was identified in the COL7A1 gene in the patient with DDEB-Pt,which may be a pathogenic mutation.

OBJECTIVE: To explore the ways of quantitative and objective evaluation for analyzing the multiple influence factors on middle ear function in the patients with primarily diagnosed NPC, and to analyze the influence factors of middle ear function in the patients with primarily diagnosed nasopharyngeal carcinoma (NPC). METHOD: Three hundred and twenty cases (320 ears) of primarily diagnosed NPC patients were examinated with electric otoscope, acoustic immittance measurement, pure tone audiometry, nasopharynx and middle ear CT or MRI scanning, eustachian tube function examination, and electronic nasopharyngoscope. A series of quantitative methods, as the influence factors including T stage, clinical stage, location, diffusion type and form of tumor, eustachian tube function, pharynx mouth shape, imaging extension (nasal, skull base, pharyngeal recess, parapharyngeal space, tensor veli palatini muscle, levator veli palatini and so on), were used to evaluate the middle ear function. SPSS 13.0 was used to anlyze the single and multiple factors in statistics. RESULT: T stage, clinical stage, location, diffusion type, and form of tumor, pharynx mouth shape, imaging extension (nasal, skull base, pharyngeal recess, parapharyngeal space, tensor veli palatini muscle, levator veli palatini) were the single influence factors on the function of middle ear in primarily diagnosed NPC patients. The gender, age, pathological types, N staging and M staging of NPC patients primarily diagnosed had no effect on middle ear function. The multple factors analysis showed that T stage, tumor location, the function of eustachian tube, tensor veli palatini muscle invasion, and skull base invasion were independent factor of affecting the middle ear function on primarily diagnosed NPC patients. CONCLUSION In this study, the influence factors of middle ear function with primarily diagnosed NPC were related to T stage, location of tumor, the function of eustachian tube, tensor veli palatini muscle invasion, skull base invasion, otitis media and quantitative criteria. The way of quantitative analysis could be used to evaluate objectively the middle ear function in patients with primarily diagnosed NPC.
Adult ; Aged ; Aged, 80 and over ; Carcinoma ; Ear, Middle ; physiopathology ; Female ; Humans ; Male ; Middle Aged ; Nasopharyngeal Carcinoma ; Nasopharyngeal Neoplasms ; diagnosis ; physiopathology ; Young Adult

OBJECTIVETo identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.

METHODSAll coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.

RESULTSTwo novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.

CONCLUSIONThe c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Humans ; Ichthyosis Vulgaris ; ethnology ; genetics ; Intermediate Filament Proteins ; genetics ; Introns ; genetics ; Male ; Mutation, Missense ; Pedigree

OBJECTIVETo observe the effect of rectus femoris island myocutaneous flap for repairing bedsores in III and IV phases at the femoral greater trochanter area as a result of paraplegia.

METHODSThirteen paraplegic patients who suffered bedsores in III and IV phases at the greater trochanter of femur area were hospitalized from July 2009 to June 2013. The bedsores ranged from 4.5 cm×4.0 cm to 10.0 cm× 9.0 cm in area. After debridement, the size of soft tissue defect ranged from 5.0 cm×4.5 cm to 10.5 cm×10.0 cm. Rectus femoris island myocutaneous flaps were used to repair these defects, with flap area ranging from 5.0 cm×5.0 cm to 11.0 cm×10.0 cm and muscular pedicle length ranging from 8 to 12 cm. The donor sites of muscular pedicle were closed by direct suture, while those resulted from forming myocutaneous flap were closed by the transplantation of autologous skin obtained from thigh.

RESULTSNecrosis appeared at the edge of myocutaneous flap in one patient, and it was healed after dressing change. The other 12 myocutaneous flaps survived well. Patients were followed up for 2 to 30 months, and bedsore did not recur.

CONCLUSIONSRectus femoris island myocutaneous flap, with characteristics of reasonable design, large donor area, big rotation angle, and with wear-, tear-, and pressure-resistance, is suitable for repairing bedsores at III and IV phases at the greater trochanter of femur area in paraplegic patients.

Debridement ; Femur ; surgery ; Humans ; Myocutaneous Flap ; Paraplegia ; Pressure Ulcer ; surgery ; Quadriceps Muscle ; transplantation ; Reconstructive Surgical Procedures ; methods ; Surgical Flaps ; blood supply ; Treatment Outcome