X-linked deafness with stapes gusher in females

A 22-year-old woman presented with severe mixed hearing loss and a flow of cerebrospinal fluid in the middle ear during stapes surgery (stapes gusher). HRCT of the temporal bones showed characteristic abnormalities of the inner ear (bulbous dilatation of the lateral portion of the internal acoustic meatus with incomplete separation from the cochlea, and widening of the first part of the facial nerve canal) described in X-linked progressive mixed deafness with stapes gusher. The evaluation of the patient's family revealed a sister with the same clinical history and identical HRCT findings, and 11 normal male relatives. This is the first report with typical findings of this entity that affects only female members of a family, suggesting another type of inheritance.     

Population genetic and family data for the human minisatellite locus D16S309 (MS205) in Germans

The distribution of restriction fragments at the DNA minisatellite locus D16S309 was estimated by investigating blood samples from 2617 unrelated West German Caucasians and 1269 offspring. Furthermore segregation of fragments was studied in a large family and in trios. Altogether 2296 meioses were studied, revealing 7 paternal and 3 maternal mutations. Inspection of phenotypes did not reveal any remarkable deviation from Hardy-Weinberg equilibrium.     

Imaging for cochlear implants

Insertion of a sound amplification device into the round window niche (extracochlear implant) or into the coils of the cochlea (intracochlear implant) can give significant benefits to some carefully selected, severely deaf patients. Imaging has an essential role in selective and pre-operative assessment. Severe otosclerosis and post-meningitic labyrinthitis ossificans are common causes of deafness in these patients and can be demonstrated by computed tomography (CT). The most suitable side for operation can be assessed. We describe our experiences with 165 patients, 69 of whom were found suitable for implants. Thin (1 mm) section CT in axial and coronal planes is the best imaging investigation of the petrous temporal bones but the place of magnetic resonance scanning to confirm that the inner ear is fluid-filled and polytomography to show a multichannel implant in the cochlea is discussed. No implants were used for congenital deformities, but some observations are made of this type of structural deformity of the inner ear.     

Paolo Zacchia — Vater der Gerichtlichen Medizin, 400 Jahre nach seiner Geburt

Zusammenfassung Historischer Einführungsvortrag anläßlich der Jahrestagung der polnischen Gerichtsmediziner in Kattowitz am 20.9.1984. Paolo Zacchia (1584–1659) hat nicht nur für die Rechtsmedizin im heutigen Sinne Grundlegendes geleistet, sondern auch innerhalb der Sozialhygiene, die damals mit der Rechtsmedizin verbunden war, bemerkenswerte Thesen vorgelegt. Sein Werk Quaestiones medico-legales ist international bekannt.Vortrag anläßlich der Jahrestagung der Polnischen Gesellschaft für Gerichtliche Medizin und Kriminologie in Kattowitz, September 1984     

Optimal patient position for lumbar puncture,measured by ultrasonography

The purpose of this study was to identify the patient position for lumbar puncture associated with the widest interspinous distance utilizing ultrasound. Sixteen healthy adult volunteers were placed in three positions commonly used for lumbar puncture (lateral recumbent with knees to chest, sitting and bent forward over an adjustable bedside stand, and sitting with feet supported and chest to knees) and the distance between lumbar spinous processes was measured by ultrasound. Measurements were compared between the three positions. Differences were analyzed using Tukeys honestly significant difference test. The results showed that the interspinous distance was significantly greater in the sitting, feet supported position than in the other two positions (P<0.001). The sitting, feet supported position may offer advantages for selected patients undergoing lumbar puncture. Ultrasonography may be a useful adjunct when performing lumbar puncture in the emergency department.     

The value of T1-weighted images in the differentiation between MS,white matter lesions,and subcortical arteriosclerotic encephalopathy (SAE)

Summary The aim of the study was to define reliable criteria for the differentiation of MR imaging between patients with MS and with vascular white matter lesions/SAE. We examined 35 patients with proven MS according to the Poser criteria and 35 patients with other white matter lesions and/or SAE. The result is that with MR a differentiation can be achieved provided that T1-weighted spin-echo sequences are included and the different pattern of distribution is considered. MS plaques are predominantly located in the subependymal region, vascular white matter lesions are mainly located in the water-shed of the superficial middle cerebral branches and the deep perforating long medullary vessels in the centrum semiovale. Infratentorial lesions are more often seen in MS. Confluence at the lateral ventricles is frequently accompanied by confluent abnormalities around the third ventricle, Sylvian aqueduct, and fourth ventricle, which is uncommon in SAE. In MS many lesions visible on T2-weighted images have a cellular or intracellular composition that renders them visible also on T1-weighted ones as regions with low signal intensity and more or less distinct boundary. Vascular white matter lesions and SAE mainly represent demyelination and can there-fore be seen on T2-weighted images, but corresponding low signal intensity lesions on T1-weighted images are uncommon. In some exceptions there are such lesions with low signal representing lacunar infarcts or widened Virchow-Robin-spaces.     

In vitro and in vivo characterisation of nor-β-CIT: a potential radioligand for visualisation of the serotonin transporter in the brain

Radiolabelled 2-Cabomethoxy-3-(4-iodophenyl)tropane (-CIT) has been used in clinical studies for the imaging of dopamine and serotonin transporters with single-photon emission tomography (SPET). 2-Carbomethoxy-3-(4-iodophenyl)nortropane (nor--CIT) is a des-methyl analogue of -CIT, which in vitro has tenfold higher affinity (IC₅₀=0.36 nM) to the serotonin transporter than -CIT (IC₅₀=4.2 nM). Nor--CIT may thus be a useful radioligand for imaging of the serotonin transporter. In the present study iodine-125 and carbon-11 labelled nor--CIT were prepared for in vitro autoradiographic studies on post-mortem human brain cryosections and for in vivo positron emission tomography (PET) studies in Cynomolgus monkeys. Whole hemisphere autoradiography with [¹²⁵I]nor--CIT demonstrated high binding in the striatum, the thalamus and cortical regions of the human brain. Addition of a high concentration (1 M) of citalopram inhibited binding in the thalamus and the neocortex, but not in the striatum. In PET studies with [¹¹C]nor--CIT there was rapid uptake of radioactivity in the monkey brain (6% of injected dose at 15 min) and high accumulation of radioactivity in the striatum, thalamus and neocortex. Thalamus to cerebellum and cortex to cerebellum ratios were 2.5 and 1.8 at 60 min, respectively. The ratios obtained with [¹¹C]nor--CIT were 20%–40% higher than those previously obtained with [¹¹C]-CIT. Radioactivity in the thalamus and the neocortex but not in the striatum was displaceable with citalopram (5 mg/kg). In conclusion, nor--CIT binds to the serotonin transporter in the primate brain in vitro and in vivo and has potential for PET and SPET imaging of the serotonin transporter in human brain.     

The “water-ida”: A simple means to separate duodenal from gallbladder activity on cholescintigraphic studies

In some ^99mTc-iminodiacetic acid studies, separation of the gallbladder from the duodenum can be difficult, despite multiple views. When faced with this problem, we have had the patient ingest 250 cc of tap water. This ingestion clears the duodenum of activity and has allowed us to see the residual activity in the gallbladder. This waterida view may be a useful addition in difficult to interpret hepatobiliary studies.     

DNA fingerprints: The importance in forensic medicine

Summary Investigation of genomic polymorphisms detected by a minisatellite named tentatively Myo, which is expected to correspond to the minisatellite in human myoglobin gene of Jeffreys et al., gives distinct and different aspects of chorionic villus and the decidual membrane in the same placenta. The chorionic villus, which is regarded as the extraembryonal tissue, represents the essential embryonal DNA fingerprint pattern, while the decidual membrane reveals the maternal one. A comparison between the DNA fingerprints from the chorion villus and from the blood sample of the suspected father provides the possibility of setting a paternity determination which can be achieved during the first trimester of a pregnancy.Dedicated to Prof. Dr. Dr. h. c. mult. Otto Prokop who retires in 1987 from the chairmanship of the Institute of Forensic Medicine, Humboldt University     

The “sickle-sign” in bone scintigraphy

A side-effect of an intensive cytotoxic treatment on bone scanning will be reported: the socalled sickle sign, a diffuse activity arlund the calvarium seen only in patients at cytotoxic therapy. The differentiation between this harmless side-effect and abnormalities caused by the cancer could be done in our patients by a vertex view. All patients with skull metastases or meningeal carcinosis and this sign in the frontal and lateral view had an inhomogenous uptake in the vertex view. This view should therefore be added to the standard views in all patients with the sickle sign.     

Amnesia due to bilateral hippocampal glioblastoma

Summary The authors report a unique case of glioblastoma which caused permanent amnesia. Magnetic resonance imaging showed the lesion to be limited to the hippocampal formation bilaterally. Although glioblastoma extends frequently into fiber pathways and expands into the opposite cerebral hemisphere, making a butterfly lesion, it is unusual for it to invade the limbic system selectively to this extent.     

A newly developed intra-operative gamma camera: performance characteristics in a laboratory phantom study

Purpose Radioguided surgery depends on the intra-operative detection of radiolabelled tissues. This is currently accomplished with hand tools capable of providing a tone signal, depending on the proximity and direction of a radioactive source in relation to the probe. The advantages of visual images of radiolabelled tissues are well recognised, but satisfactory means of acquiring such images intra-operatively are not yet available. The goal of this study was to examine the performance of a newly developed intra-operative gamma camera, compact enough to be a hand tool and capable of yielding a visual image of the source field.Methods The study was performed in the laboratory with a phantom consisting of a water bath and small hollow spheres (1–2 cm in internal diameter) filled with ^99mTc (1–5 Ci/cc), placed in different configurations within the bath. For comparison, studies were also performed using a standard intra-operative gamma probe, and others using a standard single-head high-resolution gamma camera.Results Compared with the gamma probe, the intra-operative camera was found to possess a superior ability to distinguish small, deep and weakly localised radioactivity sources from background. By acquiring images from different angles, it allowed a 3D understanding of multiple radioactive sources. It detected cold defects within a hot radiolabelled sphere. It discriminated a weak source located near a much hotter radioactivity source, similar to discrimination with the standard gamma camera, and discerned localised sources against a background of radioactivity.Conclusion It is anticipated that the high imaging potential of the camera tested in this study will offer clinical advantages.     

Measurements of the rubidium isotopic activities and the elution parameters of 81mKr generators using a standardized 114mIn source

A method is described for measuring a number of parameters associated with an inorganic ion-exchange krypton generator. These are the activities of rubidium isotopes in inorganic ion-exchange krypton generators, the ^81mKr extraction rate, the ^81mKr activity delivered to patients during ventilation studies, the elution efficiency, and the radionuclide purity of the eluted gas. The method is based on the calibration of detectors, Ge(Li) and NaI(Tl), with a standardized ^114mIn source at matching photon energies. The average activities present in our generators at the end of bombardment (EOB) were 14.6±3.8 mCi (⁸¹Rb), 6.2±1.6 mCi (^82mRb) and 53±9.4 Ci (⁸³Rb). The ^81mKr extraction rate 2 h post-EOB was 10.2±2.3 mCi/min at an air flowrate of 1 l/min. The ^81mKr activity delivered to patients during a ventilation study was 91±16 mCi. The elution efficiency of the generators averaged 50%±7% at an air flowrate of 1 l/min. The eluted gas contained Rb radioisotopic impurities in trace quantities of approximately 0.06 Ci/l.     

Serial MRI of olivary hypertrophy: Long-term follow-up of a patient with the “top of the basilar” syndrome

We describe a patient with the top of the basilar syndrome, in whom MRI documented the appearance and regression of olivary hypertrophy.     

PET and MR imaging in a neuro-behçet syndrome

Positron emission tomography (PET) and magnetic resonance imaging (MRI) studies were performed on a case of neuro-Behçet's syndrome. In accordance with the clinical signs, FDG PET (using¹⁸F-labeled 2-F-2-desoxyglucose) revealed disseminated storage defects in the cerebrum and cerebellum. Focal regions of enhanced signal intensity were demonstrated in the parietal white matter of the cerebrum in T2-weighted images and in the brain stem by MRI.This article was presented at the 1st EEC workshop on accuracy determination in PET, January 19–20th. 1989 Pisa, Italy (COMAC-BME Concerted Project Characterization and Standardization of PET Instrumentation)     

Sodium bicarbonate-augmented stress thallium myocardial scintigraphy

It is well known that sodium bicarbonate in pharmacological doses induces transient alkalosis, causing intracellular transport of serum potassium. The aims of this study were (a) to investigate whether, in humans, myocardial thallium-201 uptake can be augmented by pretreatment with a single bolus of sodium bicarbonate at a pharmacological dose, (b) to verify general safety aspects of the intervention and (c) to evaluate the clinical implications of augmentation of ²⁰¹Tl uptake, if any. Routine exercise myocardial scintigraphy was performed twice in eight adult volunteers (five normal and three abnormal), once without intervention and the second time (within a week) following intravenous administration of sodium bicarbonate (88 mEq in 50 ml) as a slow bolus 1 h prior to the injection of ²⁰¹Tl. Conventional myocardial thallium study was compared with sodium bicarbonate interventional myocardial scintigraphy with respect to myocardial uptake (counts per minute per mCi injected dose), washout patterns in normal and abnormal myocardial segments, and overall clinical interpretation based on planar and single-photon emission tomographic (SPET) images. All patients remained asymptomatic after the intervention. A mean increase of 53% in myocardial uptake of thallium was noted in post-exercise acquisitions after the intervention, confirming uptake of the tracer via the potassium-hydrogen pump and its augmentation by transient alkalosis. The washout pattern remained unchanged. The visual quality of planar and SPET images improved significantly after the intervention. Out of the five abnormal myocardial segments identified in three cases, four showed significant filling-in after the intervention, causing the diagnosis to be upgraded from partial scar to ischaemia, or from ischaemia to normal. The overall scan impression changed in two out of three such cases. Sodium bicarbonate augmentation may have significant implications for stress-thallium scintigraphy and may be a new parameter for defining myocardial viability.     

MELD Score as a Predictor of Early Death in Patients Undergoing Elective Transjugular Intrahepatic Portosystemic Shunt (TIPS) Procedures

Purpose To Evaluate the MELD score as a predictor of 30-day mortality in patients undergoing elective TIPS procedures.Methods This was a retrospective, IRB-approved study. The medical records of all patients who underwent a TIPS procedure between May 1, 1999 and June 1, 2003 in a single institution were reviewed. Patients who underwent elective TIPS were selected. Elective TIPS was performed in 119 patients with a mean age of 55.1 (± 9.6) years. The MELD and Child-Pugh scores before TIPS, etiology of cirrhosis, portosystemic gradients before and after TIPS, procedure time, and procedural complications were obtained from the medical records. The MELD and Child-Pugh scores before TIPS were compared between the survivor group (SG) and the early death (EDG) group. The early death rate was calculated for MELD score subgroups (1–10, 11–17, 18–24, and >24). Data were analyzed using the Fisher exact test, chi-square test and independent-sample t-test. A p value of less than 0.05 was considered significant.Results Technical success rate was 100%. The early death rate was 10.9% (13/119). The mean MELD scores before TIPS were 19.4 (± 5.9) (EDG) and 14 (± 4.2) (SG) (p=0.025). The early death rate was highest in the pre-TIPS MELD > 24 subgroup. The Child-Pugh scores were 9.0 (± 1.6) (SG) and 9.8±1.06 (EDG) (p=0.08). The mean portosystemic gradients before TIPS were 20.5 (± 7.7) mmHg (EDG) and 22.7 (± 7.3) (SG) (p > 1) and the mean portosystemic gradients after TIPS were 6.5 (± 3.5) (EDG) and 6.9 (± 2.4) (SG) (p > 1). The mean procedural times were 95.6 (± 8.4) min (EDG) and 89.2 (± 7.5) min (SG) (p > 1). No early death was attributed to a fatal complication during TIPS.Conclusion The MELD score is useful in identifying patients at a higher risk of early death after an elective TIPS. On th basis of our results, we do not endorse elective TIPS in patients with MELD scores > 24.     

Detection of ileocecal Crohn’s disease using ultrasound as the primary imaging modality

At our hospital ultrasound (US) is used as an initial screening procedure in all patients with abdominal symptoms. The purpose of this study was to assess the effect of this policy on the detection of ileocecal Crohns disease. We retrospectively studied all patients with a new diagnosis of ileocecal Crohns disease from our institute over the period 1990–2001. The final diagnosis was based on clinical follow-up and pathological, surgical, US, and other radiological findings. We noted who referred the patient to the radiology department, what the initial clinical presumption was, and what the first imaging study was. US diagnoses were determined from the initial US report and US findings were registered from the images. There were a total of 47 patients (20 men, 27 women) with a mean age of 30 years and a median age of 27 years (range 14–75 years). In all patients the initial imaging study was an abdominal US. Using US, a confident diagnosis of ileocecal Crohns disease was made in 35 of the 47 patients, Crohns disease was suggested among the differential diagnosis in 10, and an incorrect diagnosis was made in 2 patients. In 28 of 47 patients, the referring physician did not consider Crohns disease when requesting the initial US examination. In eight patients with appendicitis-like symptoms, the US findings strongly influenced the decision to refrain from operation at that point in time. US, when used as a low-threshold diagnostic procedure, is a reliable and noninvasive means for making an early diagnosis of ileocecal Crohns disease in patients who present with atypical symptoms. It may prevent both unnecessary therapeutic delay as well as unnecessary surgery.     

A new approach to computer-aided comparison of skull and photograph

A computer-based method developed for the purpose of checking the results of identification performed with the traditional method of video-superprojection (developed by Helmer and Grüner) is demonstrated; it does not require any special programs in addition to those necessary for digitising the video pictures. The method is suitable for filtering out false-positive cases. A great advantage is that the phase of computer evaluation can be separated from the job performed in the video studio, both in time and space. The process can be reconstructed, which means it can be checked. The results can be easily documented and interpreted for lay people.     

Falx “calcification” — Does this exist?

Summary In discussing mineralization of the falx cerebri many radiology textbooks use the term calcification and make no mention of ossification. A retrospective study of 18 consecutive autopsy cases, in which skull radiographs had revealed mineralization of the falx, was undertaken. These areas of mineralization were excised and submitted for histological evaluation. The density seen on the skull radiograph consisted of membranous bone complete with bone marrow elements in all cases. Two cases had metastatic deposits in the ossified falx and one case showed leukemic infiltration. Some aspects of the pathogenetic mechanisms involved in calcification of the falx are discussed.

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Falxverkalkungen — existieren sie überhaupt?

Zusammenfassung Oftmals wird in radiologischen Lehrbüchern der Ausdruck Falxverkalkung gebraucht und von einer Verknöcherung keine Notiz genommen. Die Verfasser führten bei 18 Autopsie-Fällen mit Falxverkalkung histologische Untersuchungen durch. Dabei zeigte es sich, daß es sich um Verknöcherungen der Falx handelt. Die Gesichtspunkte der Pathogenese dieser Falxverknöcherung werden diskutiert.

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La calcification de la faux existe-t-elle?

Résumé Lorsqu'ils parlent des dépôts opaques dans la faux du cerveau, beaucoup d'auteurs utilisaient le terme de calcification et ne font pas mention d'ossification. L'étude de 18 cas autopsiés de sujets présentatant un dépôt radio-opaque au niveau de la faux et leur examen histologique a montré qu'il s'agit d'ossification membraneuse. Dans deux cas les auteurs ont trouvé une métastase au niveau de l'ossification de la faux et dans un cas une infiltration leucémique.

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This work was supported in part by a Special Fellowship Award # 2F11 NS 2576-02, NSRB, from the National Institute of Neurological Diseases and Stroke, U.S. Public Health Service.