We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days. This condition appeared similar to that described by Galloway and Mowat and reviewed by Cooperstone, et al, especially the presence of abnormal gyral patterns. She died at 19 months. The second infant; the brother of the first baby had a very similar condition. These two cases may represent the first cases of Galloway-Mowat syndrome in the Korean population.
Humans ; Infant ; Microcephaly ; Nephrotic Syndrome ; Proteinuria ; Siblings*

Injuries to the gallbladder are found in about only 2% of patients with blunt abdominal trauma, and isolated gallbladder perforation is even less common. The gallbladder is less accessible to trauma because it is partially embedded in the liver, cushioned by the surrounding omentum and bowel, and shielded by the rib cage. It is usually associated with other visceral injuries, especially the liver. The leakage of bile from a ruptured gallbladder may not immediately produce symptoms of peritonitis, making an early diagnosis difficult, and causes delays to treatment. A 47-year-old man presented to our emergency department complaining of diffuse abdominal pain after a pedestrian traffic accident, but his vital signs were stable. In the laboratory tests, his hemoglobin was normal, but his blood chemistry showed mild jaundice (bilirubin 3.6 mg/dl). An abdominal computed tomogram showed pericholecystic and a right paracolic fluid collection, with a collapsed gallbladder. The patient underwent an operation under a diagnosis of hemoperitoneum, and when the peritoneal cavity was entered, the gallbladder was ruptured at the fundus, and about 500 cc of bile had accumulated in the abdominopelvic cavity. The other visceral organs were non-specific. We report a case of an isolated rupture of the gallbladder, with a review of the associated literature.
Abdominal Pain ; Accidents, Traffic ; Bile ; Chemistry ; Diagnosis ; Early Diagnosis ; Emergency Service, Hospital ; Gallbladder* ; Hemoperitoneum ; Humans ; Jaundice ; Liver ; Middle Aged ; Omentum ; Peritoneal Cavity ; Peritonitis ; Ribs ; Rupture ; Vital Signs

OBJECTIVE: To compare an objective assessment scale for "come-to-sit" in stroke patients with the previously established subjective assessment scales of "performance-based assessment" and the "ability for basic movement scale". METHOD: A specifically designed jacket was used to determine the objective degree of assistance needed for patients to perform the task. While patients were sitting up, the investigator evaluated the amount of assistance needed in a fully dependent state (A) and with maximal effort (B). Using this measure, we obtained an objective scale, {(A-B)/A} x100. In addition, patients were tested in two starting positions: hemiplegic-side lying and sound-side lying. We then compared the objective scale with subjective scales and other parameters related to functional outcomes. RESULTS: For both starting positions, the objective assessment scale showed high correlation with the previously established subjective scales (p<0.01). Only the hemiplegic-side lying-to-sit objective scale showed a significant correlation with the parameters used to assess functional outcomes (p<0.05). In terms of Brunnstrom stages, only the leg stage showed a significant correlation with the objective "come-to-sit" scale (p<0.01). CONCLUSION: The objective scale was comparable to established subjective assessment scales when used by an expert. The hemiplegic-side lying-to-sit maneuver had a high correlation with patient's functional recovery. Specifically, balance and lower extremity function appear to be important factors in the "come-to-sit" activity.
Deception ; Humans ; Leg ; Lower Extremity ; Research Personnel ; Stroke ; Weights and Measures

PURPOSE: A mucocele of the appendix is an uncommon pathology, representing 0.2% to 0.3% of all appendix specimens. It is often diagnosed clinically as a result of its ability to cause signs and symptoms similar to those of acute appendicitis. If it is asymptomatic, it is often detected as an incidental finding during ultrasonography, computed tomography, radiographic examination of the gastrointestinal tract, or laparotomy. The purpose of this study was to identify the clinical features of mucocele of the appendix. METHODS: We describe 35 cases of mucocele of the appendix diagnosed at Uijeongbu St. Mary's hospital between January 1993 and December 2006. We analyzed demographic, clinical, and pathologic data of all the cases. RESULTS: A total of 12 males and 13 females with mean age of 54.7+/-14.9 years are described. The peak incidence occurred in the seventh decade (34.3%). Sixteen patients presented with symptoms and signs similar to those found in acute appendicitis. Ten patients complained of a palpable mass, 2 patients complained of non-specific abdominal pain, and 7 patients were asymptomatic. Fourteen cases were diagnosed preoperatively, and 3 cases were discovered incidentally. Pathologic examination revealed mucosal hyperplasia in 20% of the cases, cystadenoma in 71%, and cystadenocarcinoma in 9%. The mean age of cystadenocarcinoma patients was older than the mean age of mucosal hyperplasia patients, and the diameter of the appendix was larger in cystadenoma patients than in mucosal hyperplasia patients. CONCLUSION: The preoperative diagnosis of appendiceal mucocele is very important to make in order to facilitate treatment planning and avoid inadvertent rupture of the mucocele during operation. We recommend more diagnostic studies in cases of suspected mucocele. Mucocele of the appendix must be included in the differential diagnosis of patients with pain in the right iliac fossa, patients older than 40 years of age, patients suffering from long-term symptoms, and patient with a palpable mass in the right iliac fossa.
Abdominal Pain ; Appendicitis ; Appendix ; Cystadenocarcinoma ; Cystadenoma ; Diagnosis, Differential ; Female ; Gastrointestinal Tract ; Humans ; Hyperplasia ; Incidence ; Incidental Findings ; Laparotomy ; Male ; Mucocele ; Rupture ; Stress, Psychological ; Tomography, X-Ray

Primary retroperitoneal mucinous cystadenomas are rare tumors that are almost always found in women. They are similar to ovarian originated mucinous cystadenoma, but there is no any other evidence of an ovarian origin for primary retroperitoneal mucinous cystadenomas. A 33-year-old woman with complaints of RLQ pain was found to have a cystic mass in the right retroperitoneal space on her abdominal CT scan. The histological diagnosis was confirmed as primary mucinous cystadenoma. We report here on a case of retroperitoneal mucinous cystadenoma, and we also talk about this tumor, including its histogenesis, through a review of the available literature.
Adult ; Cystadenoma, Mucinous ; Female ; Humans ; Mucins ; Retroperitoneal Space