The multiple lentigines syndrome or LEOPARD syndrome is an autosomal dominantly inherited disorder with a variety of abnormalities and a familial occurrence. This syndrome is characterized by the presence of numerous dark brown macules on the skin but not the mucous surface, and by a marked increase in the number of lentigines from birth to puberty. The eponym LEOPARD stands for lentigines, EKG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. We report a case of multiple lentigines syndrome in 7-year-old boy. He had numerous pinhead to pea sized, dark brownish macules scattered on the entire body and also had pulmonary stenosis, EKG abnormality, ocular hypertelorism and right exotropia. Interestingly, he also had a labial melanotic macule on the lower lip, which is usually spared in the multiple lentigines syndrome. Histologically, the biopsy specimen taken from the macule revealed an elongation of rete ridges, an increase of melanin pigments in the basal layer and mild inflammatory infiltrates intermingled with the melanophages in the upper dermis.
Adolescent ; Biopsy ; Child ; Deafness ; Dermis ; Electrocardiography ; Eponyms ; Exotropia ; Genitalia ; Humans ; Hypertelorism ; Lentigo ; LEOPARD Syndrome* ; Lip ; Male ; Melanins ; Panthera ; Parturition ; Peas ; Puberty ; Pulmonary Valve Stenosis ; Skin

There have been few reports on fibrous dyplasia associated with secondary hyperparathyroidism. We report a case of a hemodialysis patient with secondary hyperparathyroidism concomitant with fibrous dysplasia of the jaws causing an abnormal facial deformity.
Congenital Abnormalities ; Humans ; Hyperparathyroidism, Secondary* ; Jaw* ; Renal Dialysis

BACKGROUND: Transtracheal jet ventilation (TTJV) has been used for 'Cannot Ventilate/Cannot Intubate' situation, lefe-saving situations, by simply introducing an IV catheter (angiocatheter) through the cricothyroid membrane. To decrease the occurrence of barotrauma caused by a continuous high pressure oxygen supply while applying TTJV, it would be ideal to have a TTJV system equipped with an inspiration time adjustable function which any currently commercially available TTJV does not have. METHODS: Recently, we made a prototype of an inspiration time adjustable TTJV and measured the corresponding injection volumes and peak inflation pressures according to the changes of oxygen supply pressure and inspiration time using catheters ranging from 14 to 20 G in a simulated human adult trachea-lung model. RESULTS: A 16 G angiocatheter provided 465 +/- 5 ml of injected volume with a peak inflation pressure of 25 cmH2O under a 50 psi oxygen supply at 1 second of inspiration, which would be adequate for an adult tidal volume. When a 14 G catheter was used under the same conditions as above, the injected volume was 1128 +/- 9 ml. All injected volumes were under 310 ml when 18 and 20 G angiocathers were used at variosus driving pressures (10 - 50 psi) and inspiration time (0.5, 0.75, and 1 s). CONCLUSIONS: An inspiration time adjustable TTJV can easily provide enough tidal volume to maintain oxygenation, and could be expected to prevent or reduce barotraumatic complications such as pneumothorax.
Adult* ; Barotrauma ; Catheters ; Humans* ; Inflation, Economic ; Membranes ; Oxygen ; Pneumothorax ; Tidal Volume ; Ventilation ; Ventilators, Mechanical*

No abstract available.
Catheters* ; Cystic Adenomatoid Malformation of Lung, Congenital* ; Fetal Therapies* ; Lung*

BACKGROUND: Several methods have been used to evaluate the engraftment and to monitor residual disease after bone marrow transplantation (BMT). Among them, karyotyping have been useful in gauging engraftment following opposite sex BMT. More recently, fluorescence in situ hybridization (FISH) has also been applied to determine engraftment and residual status. In order to establish the utility of this method in clinical practice, we have evaluated the data from FISH and several methods. METHODS: We performed FISH using chromosome X alpha-satellite probe (Oncor , USA) on twenty eight peripheral blood and nine bone marrow nuclear cells from eleven patients who underwent sex mis-matched transplant and from a patient who had a loss of X chromosome. RESULTS: In nine patients with well engrafted BMT, signals of host cells showed less than 5% in all patients, evaluated 21-210 days post-transplant. Mixed chimerism was detected in six patients; transiently in early post-transplant period in four, in a patient with engraftment failure, and in a patient with relapse, respectively. CONCLUSION: FISH using X probe is a rapid, quantitative and sensitive 'interphase cytogenetic method' for the evaluation of engraftment and monitoring of residual disease following sex mis-matched BMT or BMT in a patient with a loss of X chromosome; It is especially useful in early post-transplant period when ony a few cells are available during severe cytopenia.
Bone Marrow Transplantation* ; Bone Marrow* ; Chimerism ; Cytogenetics ; Fluorescence* ; Humans ; In Situ Hybridization* ; Karyotyping ; Recurrence ; X Chromosome

PURPOSE: Despite its minimal invasiveness, the application of standard laparoscopic donor nephrectomy has been limited by technical difficulty and the concern for the prolongation of the warm ischemic and operation times. Our experience of hand-assisted laparoscopic donor nephrectomy (HALDN) is reported and compare with that of an open donor nephrectomy (ODN). MATERIALS AND METHODS: 28 patients underwent a HALDN of the left kidney at our institution. During the same period, 31 patients underwent an ODN of the left kidney by the same surgeon. To compare HALDN with ODN, the operation time, estimated blood loss (EBL), hematocrit difference between pre- and post-operation (delta Hct), warm ischemic time, periods of time to resume diet and to remove drain, hospital stay, complications and graft function and survival were evaluated. RESULTS: The HALDN patients had similar mean operation and warm ischemic times to those undergoing ODN (189 versus 182 minutes and 2.0 versus 1.7 minutes, respectively). The mean hospital stay was shorter for the HALDN than the ODN patients (5.5 versus 6.9 days, p<0.05). There were no significant differences between the patients undergoing HALDN and ODN in terms of the EBL, deltaHct, and times to resume diet and to the remove drain and complications. Two of the HALDN and four of the ODN patients experienced acute rejection. The graft survivals were 100 and 96.8% in the HALDN and ODN, respectively. There was no significant difference in the allograft functions between the HALDN and ODN groups. CONCLUSIONS: A HALDN is technically feasible, has the benefit of minimal invasiveness and can reduce the potential graft damage by minimizing the operation and warm ischemic times. Therefore, HALDN seems to be a favorable option for live donor nephrectomy.
Allografts ; Diet ; Graft Survival ; Hand ; Hematocrit ; Humans ; Kidney ; Kidney Transplantation ; Laparoscopy ; Length of Stay ; Living Donors ; Nephrectomy* ; Tissue Donors* ; Transplants ; Warm Ischemia

Tropomyosin-related kinase A (TrkA) plays an important role in cell survival, differentiation, and apoptosis in various neuronal and nonneuronal cell types. Here we show that TrkA overexpression by the Tet-On system mimics NGF-mediated activation pathways in the absence of nerve growth factor (NGF) stimulation in U2OS cells. In addition, p53 upregulation upon DNA damage was inhibited by TrkA, and p21 was upregulated by TrkA in a p53-independent manner. TrkA overexpression caused cell death by interrupting cell cycle progression, and TrkA-induced cell death was diminished in the presence of its specific inhibitor GW441756. Interestingly, TrkA-mediated cell death was strongly related to gammaH2AX production and poly (ADP-ribose) polymerase cleavage in the absence of DNA damage inducer. In this study, we also reveal thatgammagammaH2AX production by TrkA is blocked by TrkA kinase inhibitors K-252a and GW441756, and it is also significantly inhibited by JNK inhibitor SP600125. Moreover, reduction of cell viability by TrkA was strongly suppressed by SP600125 treatment, suggesting a critical role of JNK in TrkA-induced cell death. We also found that gammaH2AX and TrkA were colocalized in cytosol in the absence of DNA damage, and the nuclear localization of gammaH2AX induced by DNA damage was partly altered to cytosol by TrkA overexpression. Our results suggest that the abnormal cytosolic accumulation of gammaH2AX is implicated in TrkA-induced cell death in the absence of DNA damage.
Anthracenes/pharmacology ; Apoptosis/drug effects/*genetics ; Carbazoles/pharmacology ; Cell Cycle/drug effects/genetics ; Cell Line, Tumor ; Cyclin-Dependent Kinase Inhibitor p21/*biosynthesis/genetics ; Cytosol/drug effects/enzymology/ultrastructure ; DNA Damage/drug effects/genetics ; Doxorubicin/pharmacology ; Histones/*metabolism ; Humans ; Indole Alkaloids/pharmacology ; MAP Kinase Kinase 4/antagonists & inhibitors ; Nerve Growth Factor/antagonists & inhibitors/metabolism ; Phosphorylation/drug effects ; Protein Binding ; *Protein Transport/drug effects/genetics ; Receptor, trkA/antagonists & inhibitors/*genetics/metabolism ; Signal Transduction ; Transfection

Neurocutaneous melanosis (NCM) is a rare congenital disease that is characterized by the presence of large or multiple congenital melanocytic nevi and melanotic lesions of the central nervous system. We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation.
Tomography, X-Ray Computed ; Neurocutaneous Syndromes/*epidemiology/radiography ; Melanosis/*epidemiology/radiography ; Male ; Magnetic Resonance Imaging ; Humans ; Dermoid Cyst/*epidemiology/radiography ; Dandy-Walker Syndrome/*epidemiology ; Comorbidity ; Cerebral Ventricle Neoplasms/*epidemiology/radiography ; Arachnoid Cysts/epidemiology/pathology ; Adult

Animals ; Biomimetics ; Calcium ; Calcium Phosphates ; Chromosome Aberrations ; Dentin ; Dinucleoside Phosphates ; Mice ; Micronucleus Tests ; Odontoblasts ; Regeneration ; RNA ; Tooth

Purpose: The model for end-stage liver disease (MELD) 3.0 has recently been suggested for determining liver allocation. We aimed to apply MELD 3.0 to a Korean population and to discover differences between patients with and without hepatocellular carcinoma (HCC). Materials and Methods: This study is a retrospective study of 2203 patients diagnosed with liver cirrhosis at Severance Hospital between 2016–2022. Harrell’s concordance index was used to validate the ability of MELD scores to predict 90-day survival. Results: During a mean follow-up of 12.9 months, 90-day survival was 61.9% in all patients, 50.4% in the HCC patients, and 74.8% in the non-HCC patients. Within the HCC patients, the concordance index for patients on the waitlist was 0.653 using MELD, which increased to 0.753 using MELD 3.0. Among waitlisted patients, the 90-day survival of HCC patients was worse than that of non-HCC patients with MELD scores of 31–37 only (69.7% vs. 30.0%, p=0.001). Applying MELD 3.0, the 90-day survival of HCC patients was worse than that of non-HCC patients across a wider range of MELD 3.0 scores, compared to MELD, with MELD 3.0 scores of 21–30 and 31–37 (82.0% vs. 72.5% and 72.3% vs. 24.3%, p=0.02 and p<0.001, respectively). Conclusion MELD 3.0 predicted 90-day survival of the HCC patients more accurately than original MELD score; however, the disparity between HCC and non-HCC patients increased, particularly in patients with MELD scores of 21–30. Therefore, a novel exception score is needed or the current exception score system should be modified.