Midfacial Changes Through Anterior Maxillary Distraction Osteogenesis in Patients With Cleft Lip and Palate.

Maxillary hypoplasia is a major issue in cleft lip and palate patients, and predictable surgical maxillary advancement is required. In the present study, the changes and stability of the maxilla and soft tissue profile achieved after the application of anterior maxillary distraction osteogenesis (AMDO) using intraoral expander in unilateral cleft lip and palate and isolated cleft palate patients were investigated by comparing to the Le Fort I osteotomy (LFI) and maxillary distraction osteogenesis (DO) with rigid external distraction (RED) system.Ten patients who underwent orthognathic treatment with AMDO were examined (AMDO group). Changes in the positions of soft and hard tissue landmarks were calculated from the lateral cephalograms taken before the distraction, at the end of the distraction, and 1 year after the surgery. They were compared with the changes in 7 other unilateral cleft lip and palate patients who underwent LFI (LFI group) and 6 others who underwent DO with RED (RED group).The mean maxillary advancement of the AMDO group was similar to that of the RED group, judged by the change of point A. During DO, the AMDO group showed less clockwise rotation of mandible compared to the RED group. The soft tissue advancement of the upper lip and nose in the AMDO group was similar to that in the RED group, which was significantly larger than that in the LFI group.Our results indicate that AMDO can be surgical option to cleft lip and palate patients with less invasive but excellent improvement in both midfacial skeletal and soft tissue similar to DO-RED.

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.

A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features of the patient were consistent with those of TCEAL1 loss-of-function syndrome. The breakpoint junction was analyzed using long-read sequencing, and blunt-end fusion was confirmed.

Unusual exocrine complication of pancreatitis in mitochondrial disease.

No association between mitochondrial disease and pancreatitis has yet been established, although diabetes mellitus and diseases caused by exocrine insufficiency, such as Pearson syndrome, are the commonest pancreatic complications of mitochondrial diseases. Here, we report 2 cases of mitochondrial disease complicated by pancreatitis as an unusual pancreatic exocrine manifestation. One patient was a 10-year-old girl with mild retardation of psychomotor development who had experienced recurrent pancreatitis since the age of 4years. Chronic progressive external ophthalmoplegia (CPEO) due to m.8344A>G mutation was diagnosed when the patient was 10years old. The other patient was a 28-year-old woman who was diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) due to m.3243A>G mutation at 10years of age. She had experienced regular recurrent vomiting since the age of 16 and suffered an episode of critical pancreatitis at 23years. In both cases, no possible etiological, morphological, or genetic factors for pancreatitis were identified, including anomalous pancreaticobiliary duct. A combination therapy of the standard treatment for chronic pancreatitis and supportive therapy for mitochondrial energy production may be beneficial to prevent the recurrence of acute pancreatitis complicating mitochondrial diseases. The pathophysiological mechanism of pancreatitis in mitochondrial disease has not been adequately established; however, our observations suggest that pancreatitis should be included in the list of pancreatic complications of mitochondrial disease.

Actual situation regarding cardiac etiology determined by clinical diagnosis of and medical examiner's postmortem findings on witnessed out-of-hospital cardiac arrest cases.

AIM: To examine indicators that may assist in the diagnosis of cardiac etiology using simple tests in witnessed cardiac etiology out-of-hospital cardiac arrest cases, which is emphasized in the Utstein Style. METHOD: The subjects were 165 witnessed cardiac etiology out-of-hospital cardiac arrest cases, which were transported to Kobe University Hospital during the five-year period between January 1, 2005 and December 31, 2009. A comparative study was conducted into whether there were any significant differences in the initial electrocardiogram (ECG) and the various early diagnostic markers of acute myocardial infarction between the group who were finally diagnosed as being of cardiac etiology and the group who were finally diagnosed as being of non-cardiac etiology. RESULTS: Of the 165 witnessed cardiac etiological cases, 69 cases were finally re-classified as non-cardiac etiological cases on the basis of scrutiny after admission or postmortem findings by the Medical Examiner. Ventricular fibrillation shown in the initial ECG and Qualitative cardiac troponin T test positive were significantly higher in the final diagnosis cardiac group than in the final diagnosis non-cardiac group. Ventricular fibrillation and troponin T positive can be seen as significant indicators in determining whether a case was cardiac or non-cardiac, and the model χ2 test result of p < 0.01 in the multiple logistic regression analysis was significant, and the determining predictive value was 65.4%. CONCLUSION: The indicators which should be noted in simple tests to improve the precision of discrimination of cardiac etiology in out-of-hospital cardiac arrests are ventricular fibrillation in the initial ECG and the qualitative test of cardiac troponin T.