Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.
Arm ; Autopsy ; Birth Weight ; Chromosomes, Human, Pair 4 ; Comparative Genomic Hybridization ; Fathers ; Fetal Growth Retardation ; Fetus ; Foot ; Gestational Age ; Hernia, Diaphragmatic ; Humans ; Karyotype ; Karyotyping ; Lung ; Male ; Mothers ; Neck ; Ultrasonography, Prenatal ; Wolf-Hirschhorn Syndrome

One case of Behcet's disease with multiple aneurysms in both common carotid arteries and abdominal aorta is presented with brief review of the literatures. A 26-year-old woman had slowly enlarging pulsatile masses in both sides of neck and recurrent ulcerations in oral cavity and genitalia. One day prior to admission, aphasia, right facial nerve palsy and right hemiplegia suddently developed. Brain CT showed acute infarction in left basal ganglia. Both Carotid Angiography and abdominal Aortography demonstrated mulitple aneurysms in both common carotid arteries and abdominal aorta with organizion thrombi and thromboembolism of internal carotid artery.
Adult ; Aneurysm ; Angiography ; Aorta, Abdominal ; Aortography ; Aphasia ; Basal Ganglia ; Brain ; Carotid Artery, Common ; Carotid Artery, Internal ; Facial Nerve ; Female ; Genitalia ; Hemiplegia ; Humans ; Infarction ; Mouth ; Neck ; Paralysis ; Thromboembolism ; Ulcer

No abstract available.
Epithelium* ; Humans* ; Larynx*

Cervical tuberculous lymphadenitis is a commonly encountered disease, expecially in adults, Differentiation from other lymphadenopathy and benign conditions such as cystic neck masses is important. CT findings of tuberculous lymphadenopathy in the abdomen and thorax are reported in many literatures. But there are only a few articles concerning cervical tuberculous lymphadenopathy. The authors retrospectively analyzed CT findings of 33 cases with cervical tuberculous lymphadenitis regarding distribution, contour, enhancing pattern, changes of adjacent fascial plane, and dermal and subcutaneous manifestations. We concluded that the presence of conglomerated nodal masses with central lucency, thick irregular rim of contrast enhancement and inner nodularity, varying degree of homogenous enhancement in smaller nodes, dermal and subcutaneous manifestations of inflammation such as thickening of overlying skin, engorgement of the lymphatic and thickening of adjacent muscles, and diffusely effaced fascial plane are suggestive of tuberculous lymphadenitis. However, some CT patterns of tuberculous adenitis may be seen in other disease; for example, enhancement can occur in hyperplastic nodes, vascular metastasis(thyroid, melanoma, and hypernephroma), lymphoma, granulomatous disease, and Castleman's disease.
Abdomen ; Adult ; Giant Lymph Node Hyperplasia ; Humans ; Inflammation ; Lymphadenitis ; Lymphatic Diseases ; Lymphoma ; Melanoma ; Muscles ; Neck ; Retrospective Studies ; Skin ; Thorax ; Tuberculosis, Lymph Node* ; Yemen

About 5% of patients with SCLC have the ectopic production of ACTH. Ectopic ACTH production of SCLC is suspected when patients of SCLC have unexplained metabolic alkalosis and hypokalemia. Most patients lack the classic feature of Cushing's syndrome. According to the recent report, they have poor prognosis, which median survival is less than 4 months and associated with a high rate of complication during chemotherapy. Also a case of paraneoplastic CRH production with SCLC can mimic the ectopic ACTH syndrome hut it can be distinguished by immunohistochemistry or direct measurement of serum CRH level. We report here a case of small cell lung cancer associated with Cushing's syndrome of ectopic ACTH production. That is immunohistochemically provened by staining with ACTH.
ACTH Syndrome, Ectopic ; Adrenocorticotropic Hormone* ; Alkalosis ; Cushing Syndrome* ; Drug Therapy ; Humans ; Hypokalemia ; Immunohistochemistry ; Lung Neoplasms* ; Lung* ; Prognosis ; Small Cell Lung Carcinoma

The anterior cruciate ligament injury is one of the most common ligament injury of the knee joint, and anterior cruciate ligament is as important structure for stabilization as a primary restraint. Noyes reported that the diagnosis of a tek of the anterior cruciate ligament was made by the original treating physician in only 6.8%. And there are many controversies in its treatment. It is certain thatearly diagnosis and treatment are th most important clue. Authors studied 48 patients of isolated anterior cruciate ligament injury who were diagnosed by same physician from Jan. 1983 to Dec. 1985 after follow ups ranging from six mnths to 4 years, average beimng one year and two months. The results were as followings: 1. The most common cause was sports injury. 2. The most common sign and symptom were hemarthrosis in acute injury and giving way in chronic injury. 3. Anterior drawer test without anesthesia had 25% of diagnostic accuracy but pivot shift test under anesthesia 95.8%. 4. 31 cases in 48 cases (64.8) had associated meniscal injury. 5. In acute torn ACL, the primajy repair was preparable but conservative treatment with arthroscopic partial menisectomy was eful in chronic case.
Anesthesia ; Anterior Cruciate Ligament ; Athletic Injuries ; Clinical Study ; Diagnosis ; Follow-Up Studies ; Hemarthrosis ; Humans ; Knee ; Knee Joint ; Ligaments

Pelvic fistulas may result from obstetric complications, inflammatory bowel disease, pelvic malignancy, pelvic radiation therapy, pelvic surgery, or other traumatic causes, and their symptoms may be distressing. In our experience, various types of pelvic fistulas are identified after pelvic disease or pelvic surgery. Because of its close proximity, the majority of such fistulas occur in the pelvic cavity and include the vesicovaginal, vesicouterine, vesicoenteric, ureterovaginal, ureteroenteric and enterovaginal type. The purpose of this article is to illustrate the spectrum of imaging features of pelvic fistulas.
Bladder Fistula/diagnosis/etiology ; Female ; Fistula/*diagnosis/*etiology ; Human ; Intestinal Fistula/diagnosis/etiology ; *Pelvis ; Ureteral Diseases/diagnosis/etiology ; Urinary Fistula/diagnosis/etiology ; Uterine Diseases/diagnosis/etiology ; Vaginal Fistula/diagnosis/etiology

Twelve cases with paralytic elbow due to a traumatic lesion of the brachial plexus (eleven cases) and to poliomyelitis (one case) were treated by elbow flexorplasty from April, 1978 to February, 1984 Seven cases with available muscle for transfer were treated by muscle transfer, three cases withwhole arm type brachial plexus injury were treated by gracilis muscle transplantation, and two relatively fresh cases by neurotization. The three operated groups were assessed in range of active elbow motion, muscle power testing, and electromyography at final follow-up. In eight cases, the elbow flexorplasty were augmented by shoulder arthrodesis. The mean length of follow-up was twenty two months. The mean arc of restored active elbow motion was 93 degrees following muscle transfer, 100 degrees following gracilis muscle transplatation, and 35 degrees following neurotization. The overall mean arc of active elbow motion was 77.5 degrees. In the muscle testing, the mean scores of the elbow flexor power were 3+, 4−, and 3− following muscle transfer, grcilis muscle transplantation, and neurotization respectively. The overall mean score of restored elbow flexor power was 3− . The electromyographic findings also revealed corresponding restoration of the action potential in the flexor muscle in the three groups. One case of the transfer group failed after sternocleidomastiod muscle transfer, who subsequently received gracilis muscle transplantation with satisfactory result.
Action Potentials ; Arm ; Arthrodesis ; Brachial Plexus ; Elbow ; Electromyography ; Follow-Up Studies ; Nerve Transfer ; Poliomyelitis ; Shoulder

Liquid tissue adheisve, Histoacryl (n-butyl-2-cyanoacrylate) has been used for the treatment of gastric variceal bleeding. The techniques are as follows: 0.5cc Histoacryl mixed with Lipiodol per each injection are used. 3 to 4 injections are usually required for large variceal convolutes under the fluoroscopic visualization after the injection of Histoacryl. Complications of sclerotherapy with Histoacryl are bleeding, perforation, stenosis and embolism depending on the concentration and amount used, as well as the intensity of the treatment. Here we describe a case report developing portal and splenic vein thrombosis as a side effect after Histoacryl injection therapy for the treatment of gastric varix bleeding, A 59-year-old male patient with liver cirrhosis was admitted due to acute gastric varix bleeding. The control of gastrie variceal bleeding was achieved by several injections of 0.7c mixture of 0.5cc histoacryl and 0,8cc Lipiodol. However, simple X-ray and ultrasonography revealed the elements of Histoacryl-lipiodol mixture in the portal and splenic vein.
Constriction, Pathologic ; Embolism ; Enbucrilate* ; Esophageal and Gastric Varices* ; Ethiodized Oil ; Hemorrhage ; Humans ; Liver Cirrhosis ; Male ; Middle Aged ; Sclerotherapy ; Splenic Vein* ; Thrombosis* ; Ultrasonography

No abstract available.
Adult* ; Hernia* ; Humans