We report an apparently benign familial 9p subtelomere deletion identified using chromosome-arm-specific subtelomere probes in a patient with multiple congenital anomalies. Our experience demonstrated that the discovery of a subtelomeric deletion and/or duplication does not always guarantee the identification of the etiology for the patient's phenotype and a positive finding with subtelomere probes should always be followed by parental study with the same probe in order to distinguish a disease causing alteration from a benign familial polymorphism.

A case of rhabdomyosarcoma of the bladder in a 4 year old boy was reported with review of literatures. The patient was managed by transurethral resection of the tumor, postoperative radiation and chemotherapeutic agent (cyclocytidine hydrochloride).
Child, Preschool ; Humans ; Male ; Rhabdomyosarcoma* ; Urinary Bladder*

The rupture of ventricular septum complicating acute myocardial infarction requires prompt recognition for the correct management of the patient. The diagnosis of this condition had required right heart catheterization. We performed two-dimensional and Doppler echocardiography in patients with systolic murmur after acute myocardioal infarction. Ventricular septal defect was found at lower interventricular septum by mapping technique of pulsed wave Doppler system and obtained high velocity Doppler tracting by continuous wave Doppler echocardiography. Doppler echocardiography could be useful noninvasive method for detection of ventricular septal rupture after acute myocardial infarction.
Cardiac Catheterization ; Cardiac Catheters ; Diagnosis ; Echocardiography, Doppler ; Heart Septal Defects, Ventricular* ; Humans ; Infarction ; Myocardial Infarction* ; Rupture ; Systolic Murmurs ; Ventricular Septal Rupture ; Ventricular Septum

BACKGROUND & OBJECTIVE: Huntington disease(HD) is clinically diagnosed by the triad of autosomal dominant inheritance, involuntary movements mainly chorea and dementia. The phenotype of HD is variable and other diseases can have same phenocopy. Therefore gene diagnosis of HD becomes essential for confirmatory diagnosis. Recent discovery of an expanded CAG trinucleotide repeat at the telomeric position of chromosome 4p made the gene diagnosis possible even in sporadic cases. We examined the length of CAG repeat in Huntington gene locus by PCR method in clinically diagnosed HB patients to make a confirmatory diagnosis. METHODS: Three patients with chorea, dementia and family history were tested. All laboratory tests including MRI had been normal so far. Genomic DNA was extracted from their WBC, and PCR was done on Huntington gene locus using primers modified from HD Collaboratory Group. Agarose gel electrophoresis to examine the rough degree of expansion, polyacrylamide gel electrophoresis to determine repeat length, and sequencing of the expanded allele were done. As a second step, three choreic patients without family history, one patient with tardive dyskinesia and one whole HD family were tested. RESULTS: Three choreic patients with family history showed expansion of CAG repeats in the amplified site. Two sporadic choreic patients, and one asymptomatic member in a HD family had increased CAG repeats. CONCLUSION: We confirmed expansion of CAG repeats in Huntington gene locus in clinically diagnosed HD. None of the patients had caudate atrophy, which has been considered an early finding. Sporadic choreic patients could be diagnosed as HD by gene study. Presymptomatic case was found in a family screening, and will need to be followed. Gene analysis offers a critical tool to make a confirmatory diagnosis of HD, and will be a powerful tool in genetic counseling.
Alleles ; Atrophy ; Chorea ; Dementia ; Diagnosis ; DNA ; Dyskinesias ; Electrophoresis, Agar Gel ; Electrophoresis, Polyacrylamide Gel ; Genetic Counseling ; Humans ; Huntington Disease* ; Magnetic Resonance Imaging ; Mass Screening ; Movement Disorders ; Phenotype ; Polymerase Chain Reaction ; Trinucleotide Repeats ; Wills

Multiple system atrophy (MSA) is a rare, yet fatal neurodegenerative disease that presents clinically with autonomic failure in combination with parkinsonism or cerebellar ataxia. MSA impacts on the autonomic nervous system affecting blood pressure, heart rate and bladder function, and the motor system affecting balance and muscle movement. The cause of MSA is unknown, no definitive risk factors have been identified, and there is no cure or effective treatment. The definitive pathology of MSA is the presence of alpha-synuclein aggregates in the brain and therefore MSA is classified as an alpha-synucleinopathy, together with Parkinson's disease and dementia with Lewy bodies. Although the molecular mechanisms of misfolding, fibrillation and aggregation of alpha-synuclein partly overlap with other alpha-synucleinopathies, the pathological pathway of MSA is unique in that the principal site for alpha-synuclein deposition is in the oligodendrocytes rather than the neurons. The sequence of pathological events of MSA is now recognized as abnormal protein redistributions in oligodendrocytes first, followed by myelin dysfunction and then neurodegeneration. Oligodendrocytes are responsible for the production and maintenance of myelin, the specialized lipid membrane that encases the axons of all neurons in the brain. Myelin is composed of lipids and two prominent proteins, myelin basic protein and proteolipid protein. In vitro studies suggest that aberration in protein distribution and lipid transport may lead to myelin dysfunction in MSA. The purpose of this perspective is to bring together available evidence to explore the potential role of alpha-synuclein, myelin protein dysfunction, lipid dyshomeostasis and ABCA8 in MSA pathogenesis.
alpha-Synuclein ; Autonomic Nervous System ; Axons ; Blood Pressure ; Brain ; Cerebellar Ataxia ; Dementia ; Heart Rate ; Lewy Bodies ; Membranes ; Multiple System Atrophy* ; Myelin Proteins ; Myelin Sheath* ; Neurodegenerative Diseases ; Neurons ; Oligodendroglia ; Parkinson Disease ; Parkinsonian Disorders ; Pathology ; Risk Factors ; Urinary Bladder

INTRODUCTION: Hydatidiform mole (HM) is an abnormal gestation characterized by significant hydropic enlargement, trophoblastic proliferation and atypia involving part or all of the chorionic villi. The diagnosis and classification of hydatidiform moles is subject to great inter-observer variability due to significant morphologic overlaps. This study aims to evaluate the utility of p57KIP2 immunohistochemistry and ploidy by Her-2 FISH in refining the diagnosis of molar tissues.

METHOD: 113 and 78 molar cases were retrieved from the archives of the Histopathology Section of the Philippine General Hospital and Pathology Department of Seoul National University Hospital, respectively. TMA sections were submitted for immunohistochemical analysis for p57KIP2. Ploidy was determined by fluorescence in situ hybridization using Her-2 probe. An interrater reliability analysis was done using the Kappa statistics with 95% confidence interval.

RESULTS: All 68 (100%) cases diagnosed as CH were negative for p57KIP2 staining and are diploid. Among the 54 cases of PH, only 1 (2%) is positive for p57KIP2 and is diploid. The interrater reliability between p57KIP2 and Her-2 FISH ploidy results is 0.66 (p <.0.001), 95% CI (0.02, 1.00) which is considered "fair to good." The kappa value between review diagnosis and p57KIP2 is 0.024 while the kappa between review diagnosis and Her-2 FISH ploidy is 0.050 both signifying poor agreement beyond chance.

CONCLUSION: Morphologic assessment alone may not be sufficient in problematic cases. p57KIP2 in conjunction with by Her-2 FISH are good adjuncts in the diagnosis and classification of hydatidiform mole.

Human ; Male ; Female ; Pregnancy ; Chorionic Villi ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Diploidy ; Reproducibility Of Results ; Hydatidiform Mole ; Trophoblasts ; Ploidies ; Molar

BACKGROUND/AIMS: To determine the prevalence and time-course of t-fastener migration after gastropexy deployment. METHODS: We reviewed our procedural database for all percutaneous gastrostomy and gastrojejunostomy tube insertions performed over a 14-month period using a widely accepted t-fastener kit for gastropexy (Kimberly-Clark). Of 201 patients, 71 (41 males, 30 females; mean age, 56 years) underwent subsequent abdominal computed tomography (CT) imaging. The location and associated findings of each t-fastener were retrospectively recorded for each CT scan performed after the tube insertion. RESULTS: A total of 153 t-fasteners were deployed during 71 procedures with subsequent CT follow-up. In the short term (within 4 weeks after deployment), 5.1% of the t-fasteners had detached and were no longer present; 59.5% were intraluminal or within the gastric wall; and 35.5% were within the anterior abdominal wall musculature or subcutaneous. In the long term (>3 months), 48.6% of the t-fasteners had detached and were no longer present, 25.0% were intraluminal or within the gastric wall, and 26.4% were within the anterior abdominal wall musculature or subcutaneous. No t-fastener-related complications, such as abscesses, fluid collections, or fistulae, were identified. CONCLUSIONS: Following gastropexy for percutaneous transgastric feeding tube placement, t-fastener migration into the abdominal wall frequently occurred soon after the tube insertion. Therefore, recent t-fastener deployment does not guarantee an intact gastropexy.
Abdominal Wall/surgery ; Enteral Nutrition ; Female ; Foreign-Body Migration/complications/*epidemiology ; Gastropexy/adverse effects/*instrumentation ; Humans ; *Intubation, Gastrointestinal ; Male ; Middle Aged ; Retrospective Studies ; *Surgical Fixation Devices/adverse effects ; Time Factors

OBJECTIVES: Despite increasing availability of global positioning system (GPS), no research has been conducted to analyze GPS data for exposure opportunities associated with time at indoor and outdoor microenvironments. We developed location-based and time-weighted spatial measures that incorporate indoor and outdoor time-location data collected by GPS. METHODS: Time-location data were drawn from 38 female subjects in California who wore a GPS device for seven days. Ambient standard deviational ellipse was determined based on outdoor locations and time duration, while indoor time weighted standard deviational ellipse (SDE) was developed to incorporate indoor and outdoor times and locations data into the ellipse measure. RESULTS: Our findings indicated that there was considerable difference in the sizes of exposure potential measures when indoor time was taken into consideration, and that they were associated with day type (weekday/weekend) and employment status. CONCLUSIONS: This study provides evidence that time-location weighted measure may provide better accuracy in assessing exposure opportunities at different microenvironments. The use of GPS likely improves the geographical details and accuracy of time-location data, and further development of such location-time weighted spatial measure is encouraged.
California ; Employment ; Female ; Geographic Information Systems* ; Humans

Ultrasonography is the ideal noninvasive imaging modality for evaluation of scrotal abnormalities. It is capable of differentiating the most important etiologies of acute scrotal pain and swelling, including epididymitis and testicular torsion, and is the imaging modality of choice in acute scrotal trauma. In patients presenting with palpable abnormality or scrotal swelling, ultrasonography can detect, locate, and characterize both intratesticular and extratesticular masses and other abnormalities. A 12-17 MHz high frequency linear array transducer provides excellent anatomic detail of the testicles and surrounding structures. In addition, vascular perfusion can be easily assessed using color and spectral Doppler analysis. In most cases of scrotal disease, the combination of clinical history, physical examination, and information obtained with ultrasonography is sufficient for diagnostic decision-making. This review covers the normal scrotal anatomy as well as various testicular and scrotal lesions.
Adult* ; Epididymitis ; Humans ; Male ; Orchitis ; Perfusion ; Physical Examination ; Scrotum* ; Spermatic Cord Torsion ; Testis ; Transducers ; Ultrasonography*

Objective: Few studies have reported radiographic and clinical outcomes of transverse process hook (TPH) placement at the proximal thoracic upper instrumented vertebra (UIV) in adult spinal deformity (ASD) surgery. This study aims to investigate radiographic and clinical outcomes of TPH placement at the UIV for ASD surgery. Methods: This is a retrospective cohort of 56 patients with ASD (age, 59 ± 13 years; followup, 44 ± 19 months) from Johns Hopkins Hospital, who underwent long posterior spinal fusion to the proximal thoracic spine (T2–5). Visual analogue scale (VAS) for back pain, Oswestry Disability Index (ODI), 36-item Short Form health survey scores, thoracic kyphosis (TK), lumbar lordosis, sacral slope, pelvic tilt, pelvic incidence, proximal junctional kyphosis (PJK) angle, PJK incidence, pattern of PJK, grades of TPH dislodgement, revision surgery, and factors associated with high-grade TPH dislodgement were analyzed. Results: VAS for back pain and ODI values improved significantly from preoperatively to final follow-up. Mean change in PJK angle was 12° (range, 0.5°–43°). Twenty patients (36%) developed PJK, of whom 13 had compression fractures at 1 vertebra distal to the UIV (UIV–1). Final TPH position was stable in 42 patients (75%). In most patients (86%), TPH dislodgement did not progress after 6-month postoperative follow-up. Three patients (5.3%) underwent revision surgery to extend the fusion because of symptomatic PJK. Unstable TPH position was associated only with revision surgery and TK. Conclusion TPH placement at the proximal thoracic UIV for long fusion showed favorable clinical and radiographic outcomes in terms of the incidence of PJK and mean PJK angle at mean 44-month follow-up. TPHs placed in the proximal thoracic UIV were in stable position in 75% of patients. Compression fracture at UIV–1 was the most common pattern of PJK. PJK angle progression was greater in revision cases and in patients with greater preoperative thoracic kyphosis.