Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.
Anemia, Sickle Cell/*diagnosis ; Anemia, Sickle Cell/*genetics ; Base Sequence ; Fathers ; Hemoglobin, Sickle/*genetics ; Heterozygote ; Homozygote ; Malaysia ; Mutation ; Nucleic Acid Amplification Techniques ; Pedigree ; Polymerase Chain Reaction ; Siblings

Patients with sickle cell anemia are chronically transfused. Therefore, it is important to prevent the alloimmunization of RBC antigens. The authors identified a high frequency antigen-negative blood group in patients with sickle cell anemia. As the number of foreigners residing in Korea is increasing, it is necessary to know what to consider when transfusing blood to sickle cell anemia patients. Patients with sickle cell anemia should be informed of the exact blood group type using extended RBC typing to confirm the ABO, Rh, Kell, and Duffy blood types at diagnosis or before the first blood transfusion. Extended matched blood transfusion can reduce the risk of alloimmunization of RBC antigens.
Anemia ; Anemia, Sickle Cell* ; Blood Transfusion ; Diagnosis ; Duffy Blood-Group System ; Emigrants and Immigrants ; Erythrocytes* ; Humans ; Korea

Priapism is defined as a persistent and painful erection lasting longer than four hours without sexual stimulation. Based on episode history and pathophysiology, priapism is classified into three subtypes: ischemic (low-flow), non-ischemic (high-flow), and stuttering priapism. Ischemic priapism is characterized by a persistent, painful erection with remarkable rigidity of the corpora cavernosa caused by a disorder of venous blood outflow from this tissue mass, and is similar to penile compartment syndrome. Stuttering priapism is characterized by a self-limited, recurrent, and intermittent erection, frequently occurring in patients with sickle cell disease. Non-ischemic priapism is characterized by a painless, persistent nonsexual erection that is not fully rigid and is caused by excess arterial blood flow into the corpora cavernosa. Because ischemic and non-ischemic priapism differ based on emergency status and treatment options, appropriate discrimination of each type of priapism is required to initiate adequate clinical management. The goal of management of priapism is to achieve detumescence of the persistent penile erection and to preserve erectile function after resolution of the priapism. To achieve successful management, urologists should address this emergency clinical condition. In the present article, we review the diagnosis and clinical management of the three types of priapism.
Anemia, Sickle Cell ; Compartment Syndromes ; Diagnosis ; Discrimination (Psychology) ; Emergencies ; Humans ; Male ; Penile Erection ; Priapism* ; Stuttering

Segmental testicular infarction is an uncommon and usually idiopathic phenomenon. Some case reports have linked segmental infarction to sickle cell anemia, hypersensitivity angiitis, polycythemia, and an idiopathic cause. Magnetic resonance imaginge (MRI) might be of great diagnostic value as the ischemic lesions have a characteristic pattern. Nonetheless, as its clinical and radiological presentation may resemble testicular tumors, a definite diagnosis can only be established following surgery. We report a case of testicular infarction which presented as a malignancy even in the frozen biopsy.
Anemia, Sickle Cell ; Biopsy ; Diagnosis ; Infarction* ; Magnetic Resonance Imaging ; Polycythemia ; Testicular Neoplasms* ; Testis ; Vasculitis, Leukocytoclastic, Cutaneous

Segmental testicular infarction is a rare cause of an acute scrotum. The etiology can be related to sickle cell anemia, hypersensitivity angiitis and polycythemia in some cases, but the condition is usually an idiopathic phenomenon. Because making the differential diagnosis between segmental testicular infarction and testicular tumor can be difficult, most authors have recommended surgery in the past. We report here on cases of testicular segmental infarction that were treated by conservative management and we describe the radiologic findings.
Anemia, Sickle Cell ; Diagnosis, Differential ; Infarction ; Polycythemia ; Scrotum ; Testis ; Vasculitis, Leukocytoclastic, Cutaneous

Bone marrow necrosis is most frequently diagnosed at postmortem examination. Antemortem diagnosis is uncommon. However, organized studies using either bone marrow biopsy specimens or autopsy material showed that bone marrow necrosis can be demonstrated in approximately one third of specimens. Bone marrow necrosis has been observed during the course of a wide variety of diseases, most commonly in association with acute and chronic leukemia, carcinoma, malignant lymphoma, infections, and sickle cell disease. We report one case of bone marrow necrosis due to miliary tuberculosis. Although appropriate diagnosis and treatment were performed, the patient expired.
Anemia, Sickle Cell ; Autopsy ; Biopsy ; Bone Marrow* ; Diagnosis ; Humans ; Leukemia ; Lymphoma ; Necrosis* ; Tuberculosis ; Tuberculosis, Miliary*

Laparoscopic cholecystectomy has been increasingly used because of several advantages, less pain, better expectation for cosmesis (requires small incisions), and more rapid recovery compared with open cholecystectomy. Oral intake is tolerated on the day of operation or on the next. In this study, we evaluated the effectiveness and safety of laparoscopic cholecystectomy in children. Nine cases of laparoscopic cholecystectomy for acute and chronic cholecystitis in children were performed at Asan Medical Center between April 2002 and April 2004. Laparoscopic cholecystectomy was performed on a total of 10 patients, but one of them was excluded because of the simultaneous splenectomy for sickle cell anemia. Clinical presentation, operative findings, operation time, length of hospital stay, and postoperative complications were analyzed. Mean age was 10.4 (4-15) years, and only 3 of patients were less than 10 years. One patient was female. In 8 the diagnosis was calculous cholecystitis. Mild adhesions were found in 3 cases and intraoperative bile leakage in 2. There was no conversion to open surgery and there were no vascular, bowel, or bile duct injuries. Mean operation time was 82.2 (20-160) minutes ; mean length of hospital stay was 2.1 (1-3) day. There was no postoperative complication. Laparoscopic cholecystectomy in children was remarkably free of side effects and complications and had a short recovery time. Laparoscopic cholecystectomy for cholecystitis is considered to be a standard procedure in children.
Anemia, Sickle Cell ; Bile ; Bile Ducts ; Child* ; Cholecystectomy ; Cholecystectomy, Laparoscopic* ; Cholecystitis ; Chungcheongnam-do ; Conversion to Open Surgery ; Diagnosis ; Female ; Humans ; Length of Stay ; Postoperative Complications ; Splenectomy

We report a case of bacteriologically proven salmonella infection on the thoracic vertebra in a patient with previous history of pulmonary tuberculosis, in the non-endemic area with no history of sickle cell disease and typhoid fever. A forty-three years old female patient was admitted because of severe back pain, chest pain, lower extremity weakness and intermittent high fever elevation. On plain X-ray there was narrowing of T11-12 disc space with adjacent vertebral body destruction localized centrally around the disc and paravertebral abscess. She had an old history of pulmonary tuberculosis and treated with antituberculosis medication twenty years ago. We treated this patient by abscess drainage, anterior curettage and iliac corticocancellous strut bone graft over the T11 to T12 by anterior transthoracic approach. Histopathological diagnosis was chronic vertebral osteomyelitis with chronic inflammatory reaction. Pus culture reported to have grown salmonella typhi group D, sensitive to ampicillin, chloramphenicol, gentamicin and tetracycline. We could establish the diagnosis and effectively treat the disease with early surgical intervention.
Abscess ; Ampicillin ; Anemia, Sickle Cell ; Back Pain ; Chest Pain ; Chloramphenicol ; Curettage ; Diagnosis ; Drainage ; Female ; Fever ; Gentamicins ; Humans ; Lower Extremity ; Osteomyelitis ; Salmonella Infections ; Salmonella typhi ; Salmonella* ; Spine* ; Spondylitis* ; Suppuration ; Tetracycline ; Transplants ; Tuberculosis, Pulmonary ; Typhoid Fever

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Anemia, Sickle Cell ; Arthritis, Infectious ; Cleidocranial Dysplasia ; Diagnosis ; Gardner Syndrome ; Hyperparathyroidism ; Klippel-Feil Syndrome ; Marfan Syndrome ; Neurofibromatosis 1 ; Osteopetrosis ; Pentalogy of Cantrell ; Poland Syndrome ; Polychondritis, Relapsing ; Retrospective Studies ; Rickets ; Scleroderma, Systemic ; Spondylitis, Ankylosing ; Sternoclavicular Joint ; Thalassemia ; Thoracic Wall ; Tuberculosis