The deletion 9p syndrome is a well characterized syndrome with about one hundred cases having been reported. Most patients have dysmorphic facial features, cardiac anomalies, and mental retardation. We report on a female infant with micrognathia, corneal opacity, cleft palace, cardiac anomaly, left polycystic kidney, and deletion 9p. Chromosome analysis and fluorescence in situ hybridization (FISH) showed her to have a derived chromosome 9 inherited from a maternal t(9;16) (p22;p13.2) by adjacent I segregation There are few reports of this particular chromosome rearrangement. We review deletion Sp syndrome.
Chromosomes, Human, Pair 9 ; Corneal Opacity ; Female ; Fluorescence ; Humans ; In Situ Hybridization ; Infant ; Intellectual Disability ; Polycystic Kidney Diseases

No abstract available.
Child* ; Glomerulonephritis* ; Humans

No abstract available.
Antibodies* ; Borrelia burgdorferi* ; Borrelia* ; Immunoblotting* ; Lyme Disease*

Broncho-gastric fistula caused by benign gastric ulcer perforation after esophagectomy is very rare. In general anesthesia of a patient with broncho-gastric fistula, in spite of hyperventilation, leakage of the anesthetic gases through fistula may make the patient hypercapneic, and positive pressure ventilation may increase the risk of the pulmanary aspiration by the regurgitation of gastric fluid by stomach distension. For that reason, in this patient, denitrogenation was performed during patient's voluntary respiration with 100% oxygen for 5 minutes, and induction was performed without positive pressure ventilation, and one lung ventilation was carried out. Hypoxemia was followed by one lung ventilation because his pulmonary function was moderate obstructive type and his lung was damaged by aspiration of gastric fluid via broncho-gastric fistula. A low level of continuous positive airway pressure (CPAP) has no significant hemodynamic effect and can maintain the patency of nonventilated lung, so hypoxemia induced by one lung ventilation may be reduced. Thus we carried out one lung ventilation with CPAP (10 cmH2O) in nonventilated lung and blocked broncho-gastric fistula with a bronchial blocker for prevention of both regurgitation of gastric fluid and leakage of anesthetic gases. One lung anesthesia was performed without any problem in this case.
Anesthesia ; Anesthesia, General* ; Anesthetics, Inhalation ; Anoxia ; Continuous Positive Airway Pressure ; Esophagectomy ; Fistula* ; Hemodynamics ; Humans ; Hyperventilation ; Lung ; One-Lung Ventilation ; Oxygen ; Positive-Pressure Respiration ; Respiration ; Stomach ; Stomach Ulcer

We reviewed a total of 36 cases of gastrointestinal carcinoid tumors during a period of ten and a half years at Seoul National University Hospital, looking at their histologic and ultrastructural features, as well as immunohistochemical results, then we correlated these with location. The primary sites of carcinoid tumors were rectum(39%), stomach(25%), appendix(22%), small intestine(8%) and colon(6%), in order of frequency. The predominant histologic types by organ were mixed and solid(A) types in all location, the solid type(type A) in the stomach, and tubular type(type C) in the rectum. Six out of 8 cases of appendiceal carcinoid were type A and the other two cases were mucinous carcinoid. Tubular adenoma or adenocarcinoma was associated with 36% of the rectal carcinoids, with one case of carcinoid in the small intestine, and one(11%) of the gastric carcinoids was found near an adenocarcinoma. Metastasis was found in one case of ileal carcinoid(100%), one case of cecal carcinoid, 3 of gastric carcinoid(33%) and 2 of rectal carcinoid(14%). Primary tumor size ranged from 1 to 7 cm. Tumor necrosis and endolymphatic tumor emboli were found in 57% and 43% of the metastatic carcinoids, respectively. PCNA index showed a borderline significant difference between metastatic and nonmetastatic groups(P value=0.063). The low prevalence of appendiceal carcinoid and the relatively high prevalence of gastric-rectal carcinoid may reflect a low chance of incidental appendectomy and frequent detection of gastrointestinal endoscopy.
Adenocarcinoma ; Adenoma ; Neoplasm Metastasis

At the beginning, researches on the biology of depression or affective illness have focused mainly on the receptor functions and neuroendocrine activities. And the studies of the past years did not break new theoretical background, but the recent advances in the research on the molecular mechanisms underlying neural communication and signal transduction do add some insights to many established ideas. This article will overview some of the more recent advances in the clinical researches of depression. Our major concerns to be presented here include the following : (1) alterations in the post-synaptic neural transduction ; (2) changes in the neurons of hypothalamic neuropeptides ; (3) decreased peptidase enzyme activities : (4) associations of hypothalamic-pituitary-adrenal axis abnormalities with serotonin neurotransmission ; (5) role of serotonin transporter ; (6) changes in the responsiveness of intracellular calcium ion levels ; (7) the inositol deficiency theory of lithium and depression ; (8) the transcription factors including immediate early genes ; (9) recent genetic studies in some families. This brief overview will suggest that changes in DNA occur during antidepressant therapy. These changes at the DNA level initiating a cascade of events underlying antidepressant modality will give us the insight on the molecular biological basis of the pathogenesis of depression and cues for a new class of antidepressants.
Antidepressive Agents ; Axis ; Biology ; Calcium ; Cues ; Depression* ; DNA ; Genes, Immediate-Early ; Humans ; Inositol ; Lithium ; Neurobiology* ; Neurons ; Neuropeptides ; Serotonin ; Serotonin Plasma Membrane Transport Proteins ; Signal Transduction ; Synaptic Transmission ; Transcription Factors

We report a case of squamous cell carcinoma arising in porokeratosis of Mibelli in a 32-year-old male who presented with a large, slowly extending, erythematous patch with central ulceration on the left lateral side of the neck. Histopathologic examination of the periphery of the patch and central tumor showed porokeratosis and squamous cell carcinoma, respectively.
Adult ; Carcinoma, Squamous Cell* ; Epithelial Cells* ; Humans ; Male ; Neck ; Porokeratosis* ; Ulcer

Strumal carcinoma of the ovary is rare tumor of germ cell origin characterized by intimate mixture of thyroid tissue and carcinoid. We report a strumal carcinoid tumor associated with ipsilateral follicular cyst and contralateral mature cystic teratoma of the ovary in a 47-year-old woman. Histologically it was composed largely of trabeculae partly of insular carcinoid and focally of individual thyroid follicles. Many cells in the carcinoid areas and even some follicular areas contained abundant argyrophile granules, and they also, in the corresponding areas, demonstrated thyroglobulin. Electron microscopic findings revealed abundant neurosecretory granules and colloid material in the same cell. We agree that this tumor is derived from hybrid showing thyroid and neuroendocrine differenciation.
Female ; Humans ; Cysts

No abstract available.
Heart Septal Defects, Ventricular ; Jacobsen Distal 11q Deletion Syndrome* ; Pyloric Stenosis, Hypertrophic

BACKGROUND: Polymerase chain reaction(PCR) has brought an oppotunity for rapid detection of Mycobacterium leprae in clinical pecimens for the diagnosis of leprosy. Th DNA segment specific to M. leprae was detectable in a matteir of hours and DNA from one orgnisa appeared positive by PCR. However, the PCR tool has not been evaluated using elinical specimeriis from leprosy patients and controls. OBJECTIVE & METHODS: The primers amplifying 372bp segment of rebetitive sequence of M. leprae DNA were used in PCR. Skin biopsy specimens from 102 leprosy patient, and controls were examined for the presence of M. leprae by PCR and the results were aomared with microscopic and histopathologic findings. RESULTS: 1. As a result, of PCR after DNA preparation of M. leprae, six other mycobacteria, ten other bacteria, and skin from leprosy with five other skin biopsy tissues, 372bp DNA fragment was specifically amplified from M. leprae. 2. Dot blot, hybridization of PCR products showed that the 372bp DNA from skin biopsy specimens were derived from M. leprae. 3. As a result of PCR after DNA preparation of 10-fold diluted M. legrae from mouse footpad, PCR gave a positive result as low as one organism. 4. Of 87 specimens in which acid-fast bacilli were found under microcopic examinations 97% had positive PCR results. 5. Of 97 specimens which hadihistopathologic evidences of leprosy 95% had positive PCR results. 6. Of 15 specimens in which acid-fast bacilli were not found under n!icroscopic examinations 73% had positive PCR results. In three of five cases which had neither histopathologic nor microscopic evidences of leprosy had positive PCR results. CONCLUSION: PCR method amplifying 372bp fragment of repetitive seqi,ence was highly sensitive and specific in detecting M. leprae DNA in skin biopsy specimens, thus may be a useful tool as an additive diagnostic method, espcially for cases where microscopic antihystopathologic findings are not definite.
Animals ; Bacteria ; Biopsy* ; Diagnosis ; DNA ; Humans ; Leprosy* ; Mice ; Mycobacterium leprae* ; Mycobacterium* ; Polymerase Chain Reaction* ; Skin*