Swinging door flap technique for endoscopic transeptal repair of bilateral choanal atresia

We describe and evaluate the outcome of an endoscopic transeptal approach for the repair of bilateral choanal atresia in neonates. The study was a prospective case series of neonates with a confirmed diagnosis of bilateral choanal atresia who were treated by the endoscopic transeptal approach between July 2003 and December 2005. The endoscopic approach was performed using 4 mm 0° telescope. A laterally based trapezoid shaped septal mucosal flap was created on each side using a radiofrequency needle. The flaps were elevated in a swinging door fashion to expose the atretic plate and the vomer. After removal of the posterior bony septum and widening of the choana, the flaps were trimmed and applied to the exposed lateral bony rim of the choana. All patients were stented bilaterally for 3–4 weeks postoperatively. Fourteen neonates (10 females and 4 males) were recruited. Their age at the time of surgery ranged from 2 to 25 days. Recovery was uneventful in all cases except for one case that developed bleeding in the immediate postoperative period and was controlled under endoscopic guidance. One case died 3 months following stent removal from uncompensated heart failure due to concomitant ventricular septal defect. Follow-up ranged from 4 to 36 months with a mean of 17.3 ± 9.3 months. An adequate functional nasal breathing and appropriate feeding with sufficient weight gain were maintained during the entire follow-up period. The described endoscopic technique offered excellent visualization of the choana and allowed maximal widening of the choana while preserving the mucosa along the entire circumference of the newly created choana and hence less risk of postoperative stenosis. Presented at sixth European Congress of Oto-Rhino-Laryngology Head and Neck Surgery, Vienna, Austria, 30 June–4 July 2007.     

Displaced type II extension supracondylar humerus fractures: do they all need pinning?

The treatment of a displaced type II extension supracondylar humerus fracture is controversial. Many authors recommend that all displaced type II fractures be surgically pinned. The purpose of this study was to determine the success of reduction and casting (without pinning) in maintaining the alignment of type II fractures. Of the 25 elbows that underwent an initial reduction in the emergency room, 18 (72%) maintained alignment. Seven fractures lost position, and five of the seven patients underwent secondary reduction and pinning. Twenty-three of the 25 (92%) elbows had a satisfactory outcome and 2 of the 25 (8%) had an unsatisfactory outcome according to the Flynn criteria. All 24 patients were satisfied with the treatment on a satisfaction survey. An attempt at closed reduction and casting, with selective pinning of the fractures that lose position, appears justified if close follow-up can be maintained.     

Surrogate pregnancy in a patient who underwent radical hysterectomy and bilateral transposition of ovaries

OBJECTIVE: To evaluate IVF-surrogate pregnancy in a patient with ovarian transposition after radical hysterectomy for carcinoma of the cervix. DESIGN: Case report. SETTING: A maternity hospital in Tel Aviv that is a major tertiary care and referral center. PATIENT(S): A 29-year-old woman who underwent Wertheim's hysterectomy for carcinoma of the uterine cervix and ovarian transposition before total pelvic irradiation. INTERVENTION(S): Standard IVF treatment, transabdominal oocyte retrieval, and transfer to surrogate mother. MAIN OUTCOME MEASURE(S): Outcome of IVF cycle. RESULT(S): A twin pregnancy in the first cycle. CONCLUSION(S): This is the second reported case of controlled ovarian stimulation and oocyte retrieval performed on a transposed ovary.     

Influence of mucin on the activity of the antiseptic Lavasept against Staphylococcus aureus

BACKGROUND: Lavasept, containing the polymeric biguanide polyhexanide, may be effective against Staphylococcus aureus colonizing the nasal mucosa. To obtain basic data on its suitability for that purpose, its antimicrobial activity was examined in the presence of mucin. METHODS: A disk diffusion test was applied using Mueller-Hinton agar, and disks soaked with a therapeutic and a 10-fold higher concentration of Lavasept. Commercially available mucin preparations from porcine stomach were added to the test system. Reference strains and 20 clinically isolates of S. aureus, and reference strains of Escherichia coli, Pseudomonas aeruginosa, Enterococcus faecalis, and Candida albicans were tested. RESULTS: Supplementation of the test medium with 1% mucin completely abolished the activity of disks loaded with the therapeutically used concentration of the antiseptic. The neutralizing effect of mucin occurred with all test strains. CONCLUSIONS: The inactivation of Lavasept by mucin may hamper a reliable clearance of nasal S. aureus carriage.     

A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia

The main clinical features of cerebro‐facio‐thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial dysmorphism, multiple malformations of the vertebrae and ribs, and intellectual disability. Recently, a TMCO1 gene mutation was shown to be responsible for an autosomal recessive CFTD syndrome characterized by craniofacial dysmorphism, skeletal anomalies, and intellectual disability. In the current report, we describe two members of a consanguineous family from an Arab community in Israel who were clinically diagnosed as suffering from craniofacial dysmorphism, skeletal anomalies, intellectual disability, and epilepsy. Both affected siblings had behavioral difficulties such as anxiety and emotional instability with impulsive behaviors. Whole‐exome sequencing revealed a homozygous stop‐gain mutation NM_019026.4: c.616C > T; p.(Arg206*) in exon 6 of the TMCO1 gene. Bioinformatics analysis suggested a structural model for the TMCO1 protein and its homologues. The clinical features of our patients were compared with those of the only other five studies available in the literature. We conclude that this mutation in the TMCO1 gene is responsible for the various clinical manifestations of CFTD syndrome exhibited by the patients studied that expand the phenotypic spectrum of the disease to include epilepsy as a characteristic feature of this syndrome.     

Molecular bases of beta-thalassemia in the Eastern Province of Saudi Arabia

beta-thalassemia is a group of heterogeneous recessive disorders common in many parts of the world. Al-Qatif and Al-Hassa oases in the Eastern Province of Saudi Arabia are regions known for high frequency of these disorders. Using two molecular methods, based on multiplexing-amplification refractory system and reverse hybridization principles, the spectrum of beta-thalassemia in the region was studied. Sixty-nine subjects with known beta-thalassemia disease and volunteers with high hemoglobin $A(2)(HbA(2))$ and low mean corpuscular volume (MCV) were included in this study. Ten mutations were detected in 91% of the subjects under study. Six of these mutations had previously been observed while the other four mutations are reported here for the first time. In addition, four of the mutations accounted for 76.8% of the subjects studied. IVSII-1 (G > A), IVSI-5 (G > A), and codon 39 (C > T) mutations were found to be the most frequent. However, the frequencies of different mutations reported here are slightly different from those reported earlier. A number of these mutations were also found in the neighboring countries, which can be explained in terms of gene flow.