Pseudoisodicentric X chromosome in a female with primary amenorrhea

A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with an LSI Kallmann (KAL) region probe [probes for Xp22.3(KAL) and CEP(X) for control] was carried out. The abnormal chromosome was KAL- and CEP(X)x2. In addition, interphase FISH analysis revealed the patient to be mosaic for two different cell lines: 90% of cells had three signals and 10% of the cells had only one signal for CEP(X). Based on these results, the karyotype of the patient was 45,X/46,X,psu idic(X)(p22.1), which is partial trisomy for Xqter-->Xp22.1 and partial monosomy for Xpter-->Xp22.1. This karyotype was considered a variant of Turner syndrome. In summary, Idic(X) and low-level mosaicism was successfully characterized by FISH analysis with a CEP(X) probe.

Arthroscopic Anterior Cruciate Ligament Reconstruction Using Bone-Patellar Tendon-Bone Autograft: A Two-to Six-Years Follow-Up Evaluation / 대한정형외과학회잡지

PURPOSE: To evaluate the clinical stability and function after an arthroscopic anterior cruciate ligament (ACL) reconstruction using a bone-patellar tendon-bone autograft. MATERIALS AND METHODS: Fifty-nine patients could be evaluated and the mean follow-up period was 47 months (24-75 months). The evaluation included a detailed history, a physical examination, a KT-1000 arthrometer measurement, and the rating systems of Lysholm, IKDC and Shelbourne. RESULTS: Fifty-four patients (92%) had a negative pivot shift. Forty-five patients (77%) had a negative Lachman test. Forty-eight patients (82%) had less than a 3 mm difference of maximal manual difference by KT-1000 arthrometer. The prone heel height difference was less than 1 cm in 37 patients (63%). The mean Lysholm score was 89.5. Forty-five patients (76%) were normal or nearly normal for the measured parameters. Patello-femoral pain was not a significant problem for most of the patients who had a mean Shelbourne score of 88.5. CONCLUSION: Reconstruction of the ACL with a bone-patellar tendon-bone autograft resulted in a reliable and predictable outcome without having significant patello-femoral pain after 2 to 6 years'follow-up.

The Prevalence of Gastroesophageal Reflux Disease in Patients with Nonspecific Esophageal Motility Disorder / 대한소화관운동학회지

BACKGROUND/AIMS: The nonspecific esophageal motility disorder (NEMD) has been reported to be related to gastroesophageal reflux disease (GERD) in some cases. However, the pathophysiologic mechanism of NEMD has not been estabilished. The aim of this study was to assess the prevalence of esophagitis and gastric acid reflux following abnormal contractions in patients with NEMD. METHODS: 122 NEMD patients were enrolled (76 male and 46 female) and their endoscopic findings and 24 hour esophageal pH data were compared with 24 healthy subjects. The abnormal contractions were classified as 1) non-transmitted contraction, 2) low amplitude contraction, 3) non-transmitted and low amplitude contraction, and 4) others. RESULTS: Among the 122 patients with NEMD, 62 patients (50.8%) had GERD, 53 patients (43.4%) had endoscopic reflux esophagitis, and 41 patients (33.6%) had both. Acid exposed time studied by 24 hour pH monitoring was more increased in NEMD patients than in healthy controls (7.48 +/- 10.68 vs 1.42 +/- 1.17), but there were no differences among abnormal contraction patterns. Moderate to severe reflux esophagitis were frequently seen in patients with combined abnormal contractions as the results of endoscopic findings. Pre-existing factors for the gastric acid reflux in NEMD patients were male and esophageal hiatal hernia. CONCLUSIONS: Large numbers of NEMD patients were found to have concurrent GERD in our study. However, the esophageal peristaltic dysfunction was more closely related to the severity of esophagitis rather than to the amount of refluexed gastric acid itself.

Gastroesophageal Acid Reflux According to Different Meals: Flour Cake vs Rice Cake / 대한소화관운동학회지

BACKGROUND/AIMS: Gastroesophageal reflux disease (GERD) is known to be one of the contributing factors to cause epigastric soreness, which we often experience after intake of flour-based meals. The aim of this study was to evaluate gastroesophgeal reflux (GER) and its mechanism according to intake of different ingredients of meals. METHODS: We investigated the effect of meals of different ingredients on the lower esophageal sphincter (LES) pressure, the frequency of transient LES relaxation (tLESR) and GER in seven healthy volunteers. The meals used in this study were either rice cakes or flour cakes, which were isocaloric and isovolumetric. A mylohyoid electromyogram, LES pressure and esophageal pH were simultaneously recorded for 3 hours after ingestion of each meal on two different occasions. RESULTS: There was no significant difference in incidence of GER between two meals. CONCLUSION: The intake of isocaloric and isovolumetric meals of either flour or rice cake did not result in significant discrepancies in frequency of GER. The increase in the frequency of swallow- and strain-associated GER observed in the case of a flour cake may be caused by reduced LES pressure after ingestion.

Activation Patterns Following Successful and Unsuccessful DC Cardioversion for Atrial Fibrillation

BACKGROUND AND OBJECTIVES: The mechanism by which atrial fibrillation (AF) electrically converts to sinus rhythm remains undefined. The purpose of this study was to assess in detail the electrograms recorded during cardioversion using direct current (DC) shock. SUBJECTS AND METHODS: In 23 patients with AF (chronic n=20, paroxysmal n=3, M:F=15:8, 50 - 70 years old), electrograms were recorded simultaneously from a 20-pole electrode catheters (Duo-deca, DAIG) in the right atrial free wall and the coronary sinus immediately after DC shock given transthoracically. The activation patterns following 45 trials consisting of 23 successful and 22 unsuccessful cardioversion were analyzed. RESULTS: Two distinct patterns following successful cardioversion were observed; either immediate resumption of normal sinus rhythm (n=5, 21%), or one or two activations immediately after shock preceded normal sinus rhythm (n=18, 79%). The energy levels of the two patterns were not significantly different (260 J, 250 J, respectively). Four patterns following unsuccessful cardioversion were noted; unchanged (n=10, 45%), converted to atrial flutter (n=4, 18%), production of three or four beats of more coordinated complexes and reverted to AF (n=5, 22%), and converted to sinus rhythm transiently and reinitiated AF by one or two atrial premature beats (n=3, 13%). The magnitude of the DC shock applied at these 4 different patterns was 196 J, 240 J, 264 J, and 340 J, respectively in which low energy levels made a simultaneous depolarization of the entire atria unlikely. CONCLUSION: Distinct activation patterns were identified following successful and unsuccessful cardioversion using DC shock for AF. These observations suggest that total depolarization of the entire atria is not a prerequisite for the conversion of AF into sinus rhythm.

Relationship between the Shape of the Gastroesophageal Junction and Gastroesophageal Acid Reflux / 대한소화관운동학회지

BACKGROUND/AIMS: The competency of the gastroesophageal junction (GEJ) holds the key in unlocking pathophysiologic mechanisms of gastroesophageal reflux disease (GERD). However, a relationship between GERD and the incompetent GEJ has not been established. The aim of our study was to assess the relationship between the shape of the GEJ and gastroesophageal acid reflux. METHODS: Forty six patients with reflux symptoms underwent an endoscopy, esophageal manometry and 24-hour esophageal pH monitoring. Patients were placed in 3 groups according to the shape of their GEJ, categorized by a retroflex view of the endoscopy; type I - gastroesophageal fold without a pouch, type II - no pouch and no fold, and type III - a pouch without a fold. RESULTS: In type II and III, LESP was reduced. However, % of time with the pH < 4.0 was increased in type III only. There was a significant correlation between the size of a hiatal hernia and the shape of the GEJ. There was a relationship between the grade of esophagitis and the shape of the GEJ. CONCLUSIONS: The retroflex endoscopic finding of the GEJ focusing on the presence or absence of a GE fold and hiatal pouch, could be an indicator of whether a patient has GERD.