Normative Data of the Interorbital Distance in Thai Population.

The incidence of the patients with craniofacial anomalies was high in southeast-Asian countries, for example, fronto-ethmoidal encephalo-menigocele or craniosynostosis. These craniofacial anomalies usually involve orbits, so a surgical orbital reconstruction is always required.Various methods have been used in the past to indirectly analyze the craniofacial region. Plain skull radiography, anthropometry, and cephalometry provided the limited information of interorbital distance in terms of accuracy whereas the interorbital distance is crucial to be reconstructed, increasing or decreasing. The accurate normal interorbital distance which grows by age as other craniofacial structures is the important data in the part of interorbital and orbital reconstruction. To date, the normative data of the bony interorbital distance among Thai population have not been established.The purpose of this study is to provide normal values and the growth patterns of the bony interorbital distances and other dimensions of the orbit according to age among Thai population through the axial computed tomography. Comparisons can then be made between normal values and those for an individual patient or those for a group of patients, for example, those with front-ethmoidal meningoencephalocele, Crouzon, or Treacher-Collins syndrome, or among values for individual patients at different time intervals.A retrospective study of computed tomography (CT) scan series of 698 normal orbits from 349 skeletally normal subjects (202 men and 147 women) was enrolled. The age range of the patients was 0 to 21 years (mean, 10.2 years; SD, 5.8 years). A series of 12 measurements were obtained from the CT scans of each subject. All CT images were obtained from patients who underwent CT of the facial bone, brain, and orbits at the Department of Radiology of 3 big hospital in Bangkok-Ramathibodi, Samitivej Srinakarin, and Bangkok hospital-since 2010 to 2015.The normal measurement values in the orbital region through the CT images, as the normal periorbital growth curve, will help improving diagnostic accuracy, staging of reconstruction, precision of corrective surgery, and follow-up of the Thai patients with craniofacial abnormalities such as front-ethmoidal meningoencephalocele, hypertelorism. These data may also apply to the related population in the southeast-Asian countries.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.

The first Smartphone application for microsurgery monitoring: SilpaRamanitor.

BACKGROUND: Postoperative monitoring of free flap tissue perfusion is vital. Devices available are expensive and complex to operate. Most surgeons rely on direct clinical observation. A monitoring system that is reliable, inexpensive, and easy to operate is needed. Using mobile phone technology, the authors developed and evaluated a new free flap monitoring system: SilpaRamanitor. METHODS: Software was developed for Android-operated mobile phones. Forty-two normal subjects were recruited to assess its effectiveness. Varying degrees of pressure were applied around the index finger to produce partial venous occlusion, partial arterial occlusion, complete venous occlusion, and complete arterial occlusion sequentially. Photographs of each subject's index and middle fingers were taken using the smartphone camera. To detect the abnormal perfusion presented on the index finger, the application was instructed to analyze photographs for color difference, with the unoccluded middle finger serving as the control. RESULTS: The sensitivity, specificity, accuracy, false-negative results, and false-positive results were 94, 98, 95, 6, and 1 percent, respectively. The accuracy of the application in grading occlusion severity was also evaluated. Thirty-nine cases (93 percent) were correctly identified as venous occlusion. The occlusion severity was correctly identified in 33 cases (85 percent). Likewise, for the 40 cases (95 percent) correctly identified as arterial occlusion, the method correctly categorized its severity in 33 cases (83 percent). CONCLUSIONS: The authors developed a new, accurate, and reliable diagnostic system for postoperative microsurgery monitoring using a smartphone application. SilpaRamanitor is inexpensive and easy to use, making it applicable in many microsurgical settings. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, IV.