Mannosidosis: an unusual cause of a deforming arthropathy

We report on a case of a deforming arthropathy in a young man with a lysosomal storage disorder. A 31-year-old man with a known diagnosis of mannosidosis presented with a painful swollen right elbow. Radiographs of his right elbow showed a disorganised joint with multiple fragments resembling the appearances of a neuropathic joint. This case provides further evidence that a deforming arthropathy may occur as part of the spectrum of skeletal abnormalities seen in mannosidosis. Received: 17 November 1999 Revision requested: 13 December 1999 Revision received: 6 March 2000 Accepted: 9 March 2000     

A 16-plex Y-SNP typing system based on allele-specific PCR for the genotyping of Chinese Y-chromosomal haplogroups

Y-chromosomal SNP (Y-SNP), with its stable inheritance and low mutation, can provide Supplementary information in forensic investigation. While commonly used Y-chromosomal STR haplotypes show their limitations, typing of Y-SNP would become a powerful complement. In this study, a 16-plex Y-SNP typing system based on allele-specific PCR (AS-PCR) was developed to discriminate four dominant Y-chromosomal haplogroups (C-M130, D-CTS3946, N-M231, and O-M175) and 12 predominant sub-haplogroups of O-M175 (O1a-M119, O1a1a1a-CTS3265, O1b-M268, O1b1a2-Page59, O2-M122, O2a1-L127.1, O2a1b-F240, O2a1b1a1-CTS5820, O2a2-P201, O2a2b1a1-M177, O2a2b1a1a1a-Y17728, O2a2b1a2-F114). A series of experimental validation studies including sensitivity, species specificity, male-female mixture and inhibition were performed. The discrimination of the typing system was preliminarily proved with a haplogroup diversity of 0.9239. Altogether, the Y-SNP typing system based on AS-PCR should be capable of distinguishing China’s dominant Y-chromosomal haplogroups in a rapid and reliable manner, thus can be employed as a useful complement in forensic casework.     

Alveolar soft part sarcoma of the retroperitoneum: A case report

Alveolar soft part sarcoma is a rare soft tissue tumor with uncertain histogenesis. It is a slow growing tumor with a high rate of metastasis. The tumor is not easily identified as clinical symptoms are not pronounced. The retroperitoneum is a rare location of tumor, with a few cases published in literature. Surgical excision is the mainstay of treatment. Here we describe a rare case of a large retroperitoneal Alveolar soft part sarcoma in a young female with radiological and histopathological findings.     

18F-FDG PET/CT findings of a right subphrenic foreign-body granuioma

We report a case of an 85-year-old woman with a foreign-body granuloma which accumulated 18F-fluorodeoxyglucose (FDG). Unenhanced computed tomography showed a hyperdense mass with a hypodense rim in the right subphrenic space. FDG PET/CT images showed intense FDG uptake in the hypodense rim and little FDG uptake in the center of the mass, showing a ring-shaped appearance. The fusion imaging of FDG PET/CT represented the metabolic features of the foreign-body granuloma. When a ring-shaped FDG uptake is noted in the abdomen of a patient with a history of abdominal surgery, a foreign-body granuloma should be included in the differential diagnosis.     

Integrated active tracking detector for MRI-guided interventions

We present a fully integrated detector suitable for active tracking of interventional devices in MR-guided interventions. The single-chip microsystem consists of a detection coil, a tuning capacitor, an intermediate frequency downconversion receiver, and a phase-locked-loop-based frequency synthesizer. Thanks to the integrated mixer, the chip output stage delivers an analog frequency-downconverted NMR signal in the frequency range from 0 to 200 kHz. The microchip, realized in a standard complementary metal oxide semiconductor technology, has a size of 1 × 2 × 0.74 mm(3) and operates at a frequency of 63 MHz (i.e., in 1.5 T clinical scanners). Tests in a standard clinical scanner demonstrate the compatibility of the complementary metal oxide semiconductor microchip with clinical MRI systems. Using a solid sample of cis-polyisoprene having a size of 1 × 1.9 × 0.8 mm(3) as internal signal source, the detector achieves a three-dimensional isotropic spatial resolution of 0.15 mm in a measuring time of 100 ms.     

Treatment of a malignant esophageal fistula with a Gore-Tex-covered flexible nitinol stent

In order to treat fistulated esophageal cancer using a flexible stent, a covered flexible stent was constructed by wrapping a nitinol stent with a thin sheet of Gore-Tex, preserving the stents original advantages of flexibility and a low-profile introducer system. This stent was used to perform standard radiotherapy in a case of fistulated esophageal cancer.     

Malignant primary intraosseus synovial sarcoma – a rare case report

Primary intraosseous synovial sarcoma is an extremely rare malignancy that occurs primarily in young adults. We present a case of a primary intraosseous synovial sarcoma of the right distal ulna in a 19-year-old female. It has a propensity to mimic other radiologic and pathologic diagnosis. Histopathology after a surgical excisional biopsy with a wide margin plus adjunct radio and chemotherapy are necessary to improve prognosis.     

Quantitative perfusion measurements using pulsed arterial spin labeling: effects of large region-of-interest analysis

PURPOSE: To study arterial spin labeling (ASL) MRI techniques and to investigate various problematic issues that still hinder the accurate and robust quantitative analysis of ASL data. MATERIALS AND METHODS: A pulsed-ASL (PASL) sequence was implemented on a 3-T imaging system and a protocol was developed for the measurement of perfusion based on fitting to a standard kinetic model. Both numerical simulations and multi-inversion time MRI data were analyzed. The effect of fitting a kinetic curve to a large region of interest (ROI) with a distribution of arterial transit times was compared to a pixel-by-pixel (PBP) method. RESULTS: It was found that a significant underestimation of perfusion of approximately 17+/-6% (P<0.001) occurs in gray matter, when comparing an ROI with a PBP analysis over a group of 12 healthy subjects. CONCLUSION: Analysis of ASL data based on a large ROI may suffer from inaccuracies arising from a distribution of transit times, implying that averaging of ASL kinetic data over such regions should therefore be avoided. When possible, a PBP fit should be performed.     

Sternal abscess due to Bartonella (Rochalimaea) henselae in a renal transplant patient

 Bartonella henselae, previously called Rochalimaea henselae, is the causative agent of cat scratch disease (CSD) in immunocompetent subjects and bacillary angiomatosis in immunocompromised ones. Bone lesions are common in bacillary angiomatosis, but not in CSD. We present the case of a patient with a renal transplant treated by immunosuppressive therapy who developed a sternal abscess with a histological pattern of CSD. The CT pattern was that of a lytic bone lesion with adjacent fluid collection. The diagnosis was made on the basis of a polymerase chain reaction amplification performed on bone material. Bartonella henselae is a newly described bacteria that causes CSD in a normal host and bacillary angiomatosis in immunocompromised patients. We report a case of an osteolytic lesion of the sternum with adjacent fluid collection related to CSD, which occurred in a patient with a renal transplant.     

Esophageal dischalasia: Serendipity during 99mTc thyroid scan

It is rare for a large amount of pooled radioactive saliva to be observed in the neck during a thyroid scan. Such a finding would imply abnormal salivation and/or esophageal kinesis. The case of esophageal dischalasia reported here suggests that a complete study of the esophagus is advisable when a large area or amount of radioactive saliva is observed in the neck during a thyroid scan.     

A massive retroperitoneal mature teratoma from a “burned-out” testicular teratoma and seminoma

Germ cell tumors are the most common nonhematologic malignancy of young men which often present with metastasis to the retroperitoneum, however a primary retroperitoneal mass should also be considered. The case presented herein reports a 42-year-old male presenting with a massive heterogenous retroperitoneal mass determined to be a mature cystic teratoma. Further investigation revealed a multifocal right testicular mass containing both a viable pure seminoma and a fibrous scar demonstrating germ cell neoplasia in situ thus representing the rare phenomenon of a “burned-out” mixed germ cell testicular tumor. When the radiologist is faced with a large retroperitoneal fat-containing mass, the differential includes a renal angiomyolipoma, liposarcoma, or germ cell tumor (whether primary or secondary). If pathology reveals a germ cell tumor, it is imperative to perform a thorough evaluation of the gonads, as it is much more common for a retroperitoneal germ cell tumor to be a metastasis from the gonads, rather than primary in origin.     

Pseudoaneurysm of the Common Hepatic Artery: Treatment with a Stent-Graft

We report a case of a pseudoaneurysm of the common hepatic artery treated with a stent-graft in a 67-year-old man. The patient presented with severe catheter bleeding through a drain following surgical and interventional procedures performed for therapeutic management of a choledochal cholangiocarcinoma. Selective hepatic arteriography showed a pseudoaneurysm close to the origin of the gastroduodenal artery. After a preliminary attempt at arterial embolization, it was decided to use a stent-graft to bridge the false aneurysm. Complete pseudoaneurysm exclusion was seen after the procedure with preservation of hepatic arterial flow.     

Cotton-induced pseudotumor of the femur

Twenty-five years prior to presentation a 41-year-old man had a femoral fracture stabilized with a 4.5 mm AO/ASIF steel plate. The femur healed uneventfully and the patient was asymptomatic for the following 20 years. He then noticed a slow-growing swelling of the left thigh associated with a degree of weakness. Radiographs of the femur 25 years after fracture stabilization showed a massive expansive osteolytic process surrounded by a rim of bone. Magnetic resonance imaging (MRI) confirmed the presence of a large tumor. Since malignancy could not be excluded the patient underwent incisional biopsy. The histologic findings were nonspecific. Because of persistent symptoms the lesion was marginally excised. Intraoperatively a folded cotton sponge was found adjacent to the femur. Histopathologic investigation confirmed a foreign body reaction probably related to the retained cotton sponge. Reactive, foreign-body-induced change may mimic bone and or soft tissue malignancies. Received: 25 October 2000 Revision requested: 20 November 2000 Revision received: 19 February 2001 Accepted: 20 February 2001     

Primary pulmonary primitive neuroectodermal tumor: CT and skeletal scintigraphic image features with pathologic correlation (2006: 6b)

We describe a rare case of a primitive neuroectodermal tumor (PNET) originating in the lung of a 28-year-old woman. A lung mass was detected incidentally on a chest radiograph taken before a Caesarian delivery. The chest P-A view showed a well-defined, lobulated mass in the right lower lobe with a small pleural effusion on the right. A thoracic CT with contrast enhancement showed a lobulated, heterogeneous, enhanced mass of approximately 9.2 × 8.4 × 6.3 cm with inner amorphous calcifications in the right lower lobe and a small right pleural effusion. A right lower lobectomy was performed 1 month after delivery. The pathology report was a primary pulmonary PNET with focal visceral pleural involvement.     

Congenital spondylolytic spondylolisthesis of the cervical spine: A case report and literature review

Congenital spondyloytic spondylolisthesis (CSS) is characterized as a pars-interarticularis well-corticated cleft with antherolithesis. The presence of spina bifida and vertebral dysplastic changes corroborate the possibility of a congenital etiology. It is a rare condition, usually discovered incidentally, especially after a trauma and should be differentiated from traumatic spondylolysis, which requires aggressive treatments. The management is often conservative, with surgery being indicated for symptomatic or unstable lesions. We report the case of a sixth cervical vertebra Congenital Spondylolytic Spondylolisthesis (CCS), discovered fortuitously following a minor trauma, in a 19-year-old male patient, treated conservatively with a favorable evolution.     

Surgical Repair of a Post-traumatic Arteriovenous Fistula Complicated by Stent-Graft Misplacement

An arteriovenous fistula (AVF) is an abnormal connection between an artery and a vein which may result from a traumatic injury or occur as a congenital abnormality. It may be asymptomatic or may present with a variety of symptoms. Surgical or endovascular treatment can be preferred. We present a case of unsuccessful percutaneous treatment of a femoral AVF due to misplacement of the stent-grafts, necessitating surgical correction.     

Fatal attack by a juvenile tiger shark,Galeocerdo cuvier,on a kitesurfer in New Caledonia (South Pacific)

We present a case of a non-provoked fatal shark attack on a 15-year old male kitesurfer in New Caledonia. The victim lost his board and was pulled by the sail along the water surface in a reef passage when a shark attacked. The shark inflicted at least two bites on the left leg, including a severe one around the knee, resulting in a quick hypovolemic shock that was fatal. The analysis of one of these bites indicated that a 2.8 m TL (est. length) tiger shark was responsible for this attack. The features of the attack are consistent with those of a predator response to a surface feeding stimulus.     

Handcrafted firearm suicide: About the unusual use of a mole gun

The body of a man was found in a workshop at the back of his home, a metal pipe embedded in his chest. In the immediate vicinity of the body, among various tools, was a machine containing a holster hit of lead shot evoking a mole-trap-type “taupe gun” (mole gun).The findings at the scene and the presence of a metal tube, sinkers, and a flock in the chest are in favour of the use of a homemade firearm. The autopsy and CT scan revealed atypical ballistic thoracic trauma responsible for a dilaceration of both the heart and thoracic aorta that caused the death. The autopsy also found a contused wound at the back of the skull without intracranial lesion, which may be due to the fall of the victim after the thoracic trauma. There is no other traumatic lesion and in particular no lesion of seizure, constraint, or defense. Toxicological analyses revealed the presence of alcoholic impregnation at the time of death. These findings, confronted with the expertise of a balistician, made it possible to understand how the victim used a mole gun to cause these lesions. A metal tube was used as a cannon to aim more surely at the heart but also as a means of triggering the propulsion mechanism of the trap without having to stretch out the arm. The tube, thinner than the barrel, had disengaged from its tip to be embedded with the lead shot in the chest of the victim.     

Remote control of catheter tip deflection: an opportunity for interventional MRI.

This study seeks to exploit the high magnetic field environment of a clinical MRI scanner and demonstrate the technical feasibility of developing a catheter whose tip can be remotely oriented within the magnetic field by applying a DC current to a coil wound around the catheter tip to generate a magnetic moment and consequent deflection. To achieve arbitrary three-dimensional deflections, a three-axis coil was wound on a 1.5 Fr cylindrical catheter. By applying DC currents in the 100 mA range, this catheter was successfully guided through a 3D phantom maze, mimicking the vasculature, under MR imaging guidance. Feasibility was demonstrated that the strong ambient magnetic field of the MR scanner offers a special opportunity to develop simple devices that can be remotely steered to sites of clinical interest.