Hereditary Myopathy with Early Respiratory Failure with a Heterozygous TTN Gene Missense Mutation

Hereditary myopathy with early respiratory failure (HMERF) is characterized by early respiratory insufficiency which is inappropriate to the degree of limb muscle weakness. Recently, mutation in TTN gene was found in HMERF patients with the aid of gene sequencing. We describe the first case presenting with distal leg weakness and early respiratory failure confirmed by TTN gene mutation in Korea.

Intramuscular Lipoma of the Supraspinatus Muscle with Supraspinatus Tendon Partial Tear / 대한정형외과학회잡지

Infiltrating lipoma in supraspinatus muscle on the shoulder is very rare. We performed open excision and rotator cuff repair on a patient who had infiltrating lipoma in supraspinatus muscle with partial tear of the supraspinatus tendon. We achieved a satisfactory outcome on one-year follow-up magnetic resonance imaging. We report on the case with a review of the literature.

An Anterosuperior Deltoid Splitting Approach for Plate Fixation of Proximal Humeral Fractures

BACKGROUND: The purpose of this study was to evaluate the usefulness and safety of the anterosuperior deltoid splitting approach for fixation of displaced proximal humeral fractures by analyzing the surgical outcomes. METHODS: Twenty-three patients who could be followed-up for at least 8 months after the treatment of displaced proximal humeral fractures through the anterosuperior deltoid splitting approach were enrolled. We evaluated the reduction of the fractures and surgery-related complications at the last follow-up using X-ray results and clinical outcomes comprising the University of California at Los Angeles (UCLA) scoring system and the Korean Shoulder Society (KSS) score. RESULTS: At the last follow-up of patients treated using the anterosuperior deltoid splitting approach for internal fixation of proximal humeral fractures, we found 22 cases (95.6%) of bone union, a mean UCLA score of 28.3 (range, 15 to 34) and a mean KSS score of 82.1 (range, 67 to 95). Various surgery-related complications were noted; a case of varus malunion after fracture displacement, a case of nonunion, a case of delayed union, two cases of impingement, and a case of partial axillary nerve injury, which recovered completely through the follow-up. CONCLUSIONS: Plate fixation using the anterosuperior deltoid splitting approach could be another reliable option for treating displaced proximal humeral fractures.

An Anterosuperior Deltoid Splitting Approach for Plate Fixation of Proximal Humeral Fractures

BACKGROUND: The purpose of this study was to evaluate the usefulness and safety of the anterosuperior deltoid splitting approach for fixation of displaced proximal humeral fractures by analyzing the surgical outcomes. METHODS: Twenty-three patients who could be followed-up for at least 8 months after the treatment of displaced proximal humeral fractures through the anterosuperior deltoid splitting approach were enrolled. We evaluated the reduction of the fractures and surgery-related complications at the last follow-up using X-ray results and clinical outcomes comprising the University of California at Los Angeles (UCLA) scoring system and the Korean Shoulder Society (KSS) score. RESULTS: At the last follow-up of patients treated using the anterosuperior deltoid splitting approach for internal fixation of proximal humeral fractures, we found 22 cases (95.6%) of bone union, a mean UCLA score of 28.3 (range, 15 to 34) and a mean KSS score of 82.1 (range, 67 to 95). Various surgery-related complications were noted; a case of varus malunion after fracture displacement, a case of nonunion, a case of delayed union, two cases of impingement, and a case of partial axillary nerve injury, which recovered completely through the follow-up. CONCLUSIONS: Plate fixation using the anterosuperior deltoid splitting approach could be another reliable option for treating displaced proximal humeral fractures.

Arthroscopic Treatment of Cam Type Femoroacetabular Impingement: Short Term Results / 대한고관절학회지

PURPOSE: We evaluated the short term results after treatment of cam type femoroacetabular impingement (FAI) by arthroscopy. MATERIALS AND METHODS: We evaluated the clinical and radiological results of arthroscopically treated cam type FAI in patients who had failed conservative treatment with hip pain, with at least 12 months follow-up, from November 2010 to December 2012. There were 19 males and six females. Mean age of patients was 32.9 years (19-57 years) and mean follow up period was 17.2 months (13-31 months). We analyzed the alpha angle, head neck offset, visual analogue scale (VAS), and modified Harris hip score (MHHS). RESULTS: Mean alpha angle improved from 64.8degrees to 39.9degrees and mean head neck offset also improved from 0.8 to 7.6 mm. Peripheral longitudinal and radial fibrillated labral tear was the most common in the anterosuperior quadrant. Damage to acetabular cartilage was identified in 14 patients. Mean VAS improved from 6.3 to 0.9 and mean MHHS improved from 51.7 to 73.6. Complications associated with the operation included three cases of femoral head articular cartilage injury, two cases of pudendal nerve injury, and two cases of lateral femoral cutaneous nerve injury. CONCLUSION: Although the short term results for arthroscopically treated cam type FAI were satisfactory, care must be taken to reduce the complications associated with arthroscopy and long term follow is needed in order to determine whether or not it can reduce osteoarthritis of the hip.

Morbidity and Mortality of the Elderly after Early Operation for Trochanteric Fractures

PURPOSE: To find out the effect of early closed reduction and internal fixation (within 24 hours after admission to hospital) on the morbidity and mortality in the elderly with intertrochanteric fractures of the femur. MATERIALS AND METHODS: Retrospectively, we analyzed 99 patients with intertrochanteric fracture of the femur who underwent surgery from January, 2009 to December, 2010. We reviewed 89 of the 99 patients and checked for early complications and reviewed the mortality rates 3 months, 6 months and 1 year after surgery. There were 24 males and 65 females. The average age was 79.8 years (61-99 years). According to the American Society of Anesthesiologists classification, 25 patients were class 1, 37 patients were class 2, 26 patients were class 3, and 1 patient was class 4. All patients were operated on by one surgeon, who was skilled in inserting intramedullary nail. RESULTS: The average surgical time was 43 minutes and the average intraoperative blood loss was 165 ml. Sixteen patients experienced delirium but all of them recovered. One patient had pneumonia at one month after surgery. Pressure sores developed in one patient but improved with conservative treatment. Pulmonary thromboembolism developed in some patients one month after surgery. Three patients (3.4%) died within three months and one patient (1.1%) died between three and six months after surgery, but no patient died between six months and one year after surgery. CONCLUSION: If patients are optimized for the operation, early internal fixation of trochanteric fracture in elderly patients after arrival at the hospital should be considered to reduce early complications and mortality.

Ganglion Cyst in Acetabular Fossa of the Hip Joint: Case Report

Ganglions commonly occur on the hand, wrist, knee, ankle and foot, with occasional development around the hip joint. Ganglion in the acetabular fossa is rare. We present a case of a ganglion in the acetabular fossa of the hip with treatment.

Comparison of Clinical Symptoms between Early and Late Onset Depression in Elderly Depressive Patients in Korea

OBJECTIVES: Clinical differences between elderly patients with early and late onset depression have been described although these have been inconsistent. We aimed to compare differences of clinical symptoms using the 17 items Hamilton Rating Scale for Depression(HAM-D-17) between two groups. METHODS: Data of 175 elderly patients with a diagnosis of major depressive disorder according to DSM-IV from January 2005 to November 2009 were collected. Seventy five patients were early onset depression and one hundred patients were late onset depression. Depressive symptoms were assessed by the 17-item Hamilton Rating Scale for depression. RESULTS: There were some differences in HAM-D-17 scores between early and late onset depression. Early onset depression patients scored significantly higher in retardation(t = 2.41, p = 0.017) and somatic symptoms( general)(t = 2.37, p = 0.019) than late onset depression patients. CONCLUSION: We concluded that early onset depression patients have more severe psychomotor retardation and general somatic symptoms than late onset depression patients in Korea. Because of some limitations of this study, further investigations will be needed to validate this study results.

Screening for Attention Deficit/Hyperactivity Disorder in Community Mental Health Services for Children / 신경정신의학

OBJECTIVES: Developing mental health services and systems to identify children with Attention Deficit/Hyperactivity Disorder (ADHD) and providing early therapeutic interventions for them are important to prevent further impairments or disturbances associated with the disorder. The purpose of this study is to examine the clinical validities and efficiencies of Korean Child Behavior Checklist (K-CBCL) and Korean ADHD Rating Scale (K-ARS) for screening and identifying children with ADHD in community. METHODS: Randomly selected 1st to 3rd graders of the two elementary schools (n=1668) in the City of Gunsan participated in the study. K-CBCL and K-ARS were used as screening instruments. Diagnoses were determined by clinical psychiatric interviews and confirmed by Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean Version (K-SADS-PL-K) using DSM-IV criteria. RESULTS: The rate of inclusion above the T score of 60 with regard to the attention problems profile of K-CBCL was 4.5%. There was a significant correlation (p or =60 in attention problems) and K-ARS (parent/teacher total> or =90th percentile) reports were combined. CONCLUSION: These findings suggest that the K-CBCL and K-ARS together could serve as a rapid and useful screening instrument to identify children with ADHD in epidemiologic case definitions.

A Study for Incidence of Childhood Leukemia in Kyongnam Province, Korea / 대한소아혈액종양학회지

PURPOSE: Of the cancers in childhood, leukemia is the most frequent one. For the desirable control of childhood leukemia, the basic data for the incidence has a great importance. The authors made a report about the incidence of leukemia in childhood, which analyzed the data from 126 cases in Kyongnam province, Korea, during 1991~1995. METHODS: The data were obtained from 126 new cases of childhood leukemia who had been living in the Kyongnam province and were diagnosed at the 26 university hospitals or general hospitals in the Kyongnam area and other cities from 1991 to 1995. RESULTS: The age-and-sex adjusted annual incidence rate per 100,000 population during 1991~1995 varied from 1.82 to 2.86, and cumulative annual incidence rate was 2.41 (male 2.26 and female 2.57 respectively). Male to female sex ratio was 1:1 in total cases. By the major types of childhood leukemia, the cases were composed of acute lymphocytic leukemia 70.6%, acute myelocytic leukemia 26.9% and chronic myelocytic leukemia 2.5%. The cumulative annual incidence rate per 100,000 population (crude rate) during 1991~1995 were 2.77 in Ulsan city, 2.62 in Chinju city and 2.34 in the whole area of Kyongnam province. CONCLUSION: It was concluded that the age-and-sex adjusted annual incidence rate per 100,000 of childhood in Kyongnam province was 2.41, which was lower than that in Pusan city in the same period. And, there was no significant difference of the cumulative annual incidence rate between Ulsan area and Chinju area in the same period.

Effects of Coadministraion of (-)-3-PPP and Haloperidol on the c-fos Expression in the Nucleus Accumbens and Prefrontal Cortex of Rats / 대한정신약물학회지

OBJECTIVE: The purpose of our study was to measure and compare the c-fos mRNA expression patterns in the nucleus accumbens (NAS) and prefrontal cortex (PFC) of rats after the administration of haloperidol (2 mg/kg) or (-)-3-PPP (2 mg/kg) plus haloperidol (2 mg/kg). METHODS: Reverse transcriptase-polymerase chain reactions (RT-PCR) were performed on total RNA from samples of the NAS and PFC of rats to detect the expression of c-fos mRNA. As internal control, beta-actin mRNA was co-amplified. The products were separated by electrophoresis, and the density of bands was quantified using an image-analysis software. RESULTS: Both the administration of haloperidol (2 mg/kg) and (-)-3-PPP (2 mg/kg) plus haloperidol (2 mg/kg) increased the c-fos mRNA expression significantly (p<0.05) in the NAS, but had no effects in the PFC. In addition, the coadministration of (-)-3-PPP (2 mg/kg) and haloperidol (2 mg/kg) demonstrated more (0.05) remarkable c-fos mRNA expressions than those obtained with the administration of haloperidol (2 mg/kg) alone. CONCLUSION: These results suggest that the coadministration of (-)-3-PPP and haloperidol may have more potent antipsychotic effect compared to the administration of haloperidol alone.

A Case of Clozapine-Induced Hypotension and Seizure in a Schizophrenic Patient with Tardive Dystonia / 대한정신약물학회지

We experienced clinical improvement of psychotic symptoms and tardive dystonia during clozapine therapy in a 24 year-old-schizophrenic woman who had received antipsychotics for 3.7 years. However, we experienced the side effects of mortal hypotension and seizure. So we reported the above case and reviewed the literature about clozapine-induced hypotension and seizure.

Prolactin Response to the Administration of Risperidone and haloperidol in Patients with Schizophrenia and Other Psychotic Disorder / 대한정신약물학회지

The purposes of this study were to compare the difference of prolactin responses to risperidone and haloperidol, the sex difference in prolactin responses to each drug and the difference of prolactin responses to both drug in each sex. METHODS: The patients with schizophrenia, schizophreniform disorder, schizoaffective disorder, delusional disorder, brief psychotic disorder diagnosed by the criteria of DSM-IV were randomly assigned to risperidone group (n=18) or haloperidol group (n=15). Prolactin levels were measured before drug administration and at week 1, 2, 3, 4, 6 after drug administration by immunoradiometric assay. RESULTS: Prolactin levels after risperidone administration were significantly (p<0.05) higher than those after haloperidol. There was no sex difference in the prolactin responses to haloperidol administration. As for risperidone administration, female showed significantly (p<0.05) higher prolcatin levels than male. There was no difference of prolactin responses to both drugs in male, but in female, prolactin levels after risperidone administration were significantly (p<0.05) higher than those after haloperidol. CONCLUSION: Compared to haloperidol, risperidone can cause significantly higher prolactin response in female than male. Therefore one should consider whether there is a sexual side effects related to the elevated prolactin level especially in female during risperidone administration.

Synovial Chondromatosis of the Hip Joint / 대한정형외과학회잡지

PURPOSE: To evaluate the effectiveness of MRI in diagnostic studies and management of synovial chondromatosis involving the hip joint. MATERIALS AND METHODS: From November 1995 to September 1998, 6 patients from 6 cases of synovial chondromatosis involving the hip joint, underwent complete removal of loose bodies and subtotal excision of the synovial membrane. RESULTS: Preoperatively, all cases had hip pain and 5 cases had limited hip motion. Preoperative MRI revealed target-like lesion in T2 images and synovial hypertrophy. MRI findings revealed lesions in the inferomedial capsular portion in all cases and invading the intrapelvic portion in 2 cases. Pathologic findings revealed Milgram stage II in 5 cases and Milgram stage III in 1 case. It also showed 15 to 350 loose bodies in the diameter of 1 mm to 40 mm. Two cases received reoperations due to recurred lesions with pain 3 to 4 months after the operation. Average Harris Hip Score was 37.8 points preoperatively and 90.8 points in the last follow-up. CONCLUSION: For synovial chondromatosis involving the hip joint, MRI contributed to a faster and more accurate diagnosis and aided in surgical planning for complete removal. There was also a need for a radical synovectomy and loose body removal for prevention of recurrence.

Outcome after Mesh or Shouldice Herniorrhaphy

BACKGROUND: Inguinal herniorrhaphy remains one of the most common general surgical operations. Mesh repair is advocated by several specialized hernia centers. The purpose of this study was to compare results of mesh and Shouldice repair for inguinal herniae. METHODS: A clinical review was made of 73 cases of inguinal herniae treated during the 3 years from January 1993 to December 1996 at the Department of Surgery, Dae Rim Saint Mary's Hospital, and at the Department of Surgery, Eum Sung Saint Mary's Hospital. We treated 38 patients with mesh repair and 35 patients with a Shouldice procedure. Among 73 cases, 72 cases were males and only one case was a female. All except 8 cases had indirect types of hernias. RESULTS: Mesh repair required less time (80 minutes) and was an easier operative technique than the Shouldice procedure (95 minutes), but postoperative pain was similar between the two procedures. Postoperative pain was relieved after one week in 60% of the patients and after four weeks in 88% of the patients. The complications following the operations were similar between the two procedures: voiding difficulties developed in two cases, wound infection in one case, and a hematoma in two cases. There were no recurrences during the 6 month to 3 year follow up. CONCLUSIONS: Inguinal herniorrhaphy using a mesh repair technique provides is simple, rapid, less painful, and effective.

Comparison of Mepivacaine and Bupivacaine as an Adjuvant of Morphine for Benign Anorectal Surgery under Caudal Anesthesia

BACKGROUND/AIMS: The caudal anesthsia is most commonly used for benign anorectal surgery, The combination of long-acting anesthetics and opiates has been used for longer duration and successful control of postoperative pain. But the side effects of peridural anesthesics and morphine have commonly occured in caudal anesthesia. This study was performed to assess the difference in clinical effects between peridural mepivacaine and bupivacaine with morphine. METHODS: We evaluated the clinical effects in 60 patients who had anal operation with Jack-Knife position under caudal anesthesia. We divided randomly these 60 patients into two groups, M and B groups (in each group, 30 patients included). Group M (n=30) was given 2% mepivacaine 20 ml with morphine 2 mg caudally, and Group B (n=30) was given 0.5% bupivacaine 20 ml with morphine 2 mg in the same manner. We measured the onset time, duration, postoperative analgesia, and side effects including urinary retention. RESULTS: The onset time for analgesia was significantly shorter in group M than in group B. The duration of postoperative pain complaints was significantly longer in group M than in group B. The postoperative analgesic effects and side effects were not significantly different between two groups. CONCLUSIONS: Caudal mepivacaine and morphine mixture is effective for control of postoperative pain without significant side effects.

A Case of Congenital Hemangiopericytoma of Small Bowel Associated with Intestinal Obstruction

Hemangiopericytoma was first described by Stout & Murray in 1942 and was an uncommon soft tissue tumor thought to be derived from vascular pericytes. Approximately 10-15% of the cases occur in children have a propensity to develop in the region of head, neck and lower extremities. We experienced a case of congenital hemangiopericytoma of small bowel in a male neonate who showed vomiting and abdorninal distension. We reported a case of congenital hemangiopericytoma of small bowel with brief review of related literature.

A Case of Craniodiaphyseal Dysplasia

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.

A Case of Craniodiaphyseal Dysplasia

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.

In vitro effect of meconium on the physical surface properties and morphology of exogenous pulmonary surfactant

The pathophysiology of meconium aspiration syndrome(MAS) is related to mechanical obstruction of the airways and to chemical pneumonitis. Meconium is also suggested to cause functional deterioration of pulmonary surfactant. Recent studies have reported that meconium inhibits the physical surface properties of pulmonary surfactant, and that administration of exogenous surfactant may provide therapeutic benefits in animal models or infants with respiratory distress due to MAS. To assess the effects of meconium on physical surface properties, especially the changes on the air-liquid interface and hypophase of pulmonary surfactant in vitro, we studied the following findings; a) the surface spreading rate(SSR) and the surface adsorption rate(SAR), b) the viscosity, c) the electron microscopic changes, on a series of mixtures with various concentrations of lyophilized human meconium and Surfactant-TA(SurfactenTM). The human meconium has significantly increased the surface tension of SSR and the viscosity of pulmonary surfactant, but had decreased the surface pressure of SAR of surfactant, and changed the electron microscopic findings of surfactant. We have concluded that these findings support the concept that meconium-induced surfactant dysfunction may play a role in the pathophysiology of MAS.