Abdominal actinomycosis associated with a sigmoid colon perforation in a patient with a ventriculoperitoneal shunt

Abdominal actinomycosis causing hydronephrosis in a patient with a ventriculoperitoneal shunt is very rare. A 27- year-old female patient was admitted complaining of lower abdominal pain. She had undergone ventriculoperitoneal shunt surgery 10 years ago. Abdominal Ultrasonography and a CT scan demonstrated an inflammatory mass in the lower left quadrant of the abdomen causing obstructive hydroureter and hydronephrosis. Laparotomy revealed a diffusely infiltrating mass involving the small bowel, mesentery, and sigmoid colon, and a 1cm perforation in the sigmoid colon. Actinomycosis was diagnosed upon histological examination. After treatment with antibiotics and surgery, the patient's condition improved.     

Successful triplet pregnancy in a patient with a unicornuate uterus with a cavitary communicating rudimentary horn

In a patient with primary infertility, ovulation was inducedby monitored stimulation with human menopausal gonadotrophins(HMG) because of polycystic ovarian disease. Infertility work-uphad shown a unicornuate uterus with a cavitary communicatingrudimentary horn. The husband showed a varicocele-related moderateoligoasthenoterato-zoospermia. A triplet pregnancy occurredin a third HMG ovulation induction cycle combined with intra-uterineinsemination of the husband's washed semen. The pregnancy wascarefully monitored, and measures to prevent premature deliverywere taken. Because of the patient's obvious discomfort in thepresence of premature labour, Caesarean section was performedat 33 weeks gestation and three healthy infants were delivered.This is the first report of a successful triplet pregnancy ina women with a unicornuate uterus. The reproductive and obstetricoutcome of this condition in general, and in the case of multiplepregnancy, is discussed.     

Ganser syndrome with work-related onset in a patient with a background of immigration

Introduction. A substantial proportion of the recently published cases of dissociative disorders have a background of immigration (Fujiwara et al., 2008). Among the dissociative disorders, Ganser syndrome is an uncommon form that has as central symptom the giving of approximate answers to questions (vorbeireden). The predisposing and triggering factors of Ganser syndrome are poorly defined. Furthermore, this condition might cooccur with other psychiatric disorders. Here we describe a patient with a background of immigration, who, after an objectively minor work-related head injury, developed severe and persistent psychiatric symptoms, with features of Ganser syndrome.

Methods. The patient was assessed medically, psychiatrically, and by neuropsychological testing.

Results. The patient is a man with no known previous psychiatric history, who lived in several countries and encountered a series of stressful experiences in the process of migration. Several years after immigrating to his current country of residency, he developed severe psychiatric symptoms of Major Depressive Disorder, with Psychotic Features and Ganser syndrome. The symptoms, which emerged after a mild head injury, have persisted for more than a year, despite treatment.

Conclusions. The similarity between this case and other reports suggests that psychosocial stresses accompanying immigration may have a catalytic effect in triggering and maintaining dissociative symptomatology.     

Infection with a virus generates a polyclonal immune response with broad alloreactive potential

Virus-specific T cells have been shown to cross-react with allogeneic HLA (allo-HLA) at a clonal level. However, the impact of a single virus on the allorepertoire has never been investigated at the polyclonal level.We made an inventory of the incidence and specificity of allo-HLA-cross-reactive-virus-specific CD8⁺ T cells in 24 healthy individuals. T cells were stained for 25 virus-specific tetramers, and mixed-lymphocyte reactions were performed against a panel of HLA-typed allostimulators. Allospecificity was confirmed by IFNγ-ELISA using T-cell clones against a panel of HLA-typed cell-lines.The polyclonal immune repertoire directed against CMV alone was associated with a memory response against six allo-HLA molecules. Besides, a single allostimulator activated memory T-cell responses with multiple viral specificities.Concluding, a single virus can substantially broaden the allo-HLA memory T-cell repertoire. This study only looked at CMV- and EBV-specific T cells, whereas the immune repertoire consists of T cells directed against many different viruses. Hence, transplant patients receiving an HLA-mismatched graft may already express a polyclonal repertoire of anti-donor-memory T cells before transplantation.     

Isolation of a bovine rotavirus with a "super-short" RNA electrophoretic pattern from a calf with diarrhea

A rotavirus with a "super-short" RNA electropherotype was isolated from a calf with diarrhea and was designated VMRI strain. Segments 10 and 11 of this rotavirus migrated more slowly than did those of bovine rotavirus strains NCDV, B641, and B223. The electrophoretic pattern of the VMRI strain was similar to that reported for rotaviruses with super-short RNA electropherotypes from humans and rabbits. Northern (RNA) blot hybridization indicated that gene 11 of the VMRI strain was altered and migrated between gene segments 9 and 10. The subgroup of the VMRI strain was shown to be subgroup I. The VMRI strain of bovine rotavirus was neutralized by antisera containing polyclonal antibodies to rotavirus serotype 6 (bovine rotavirus serotype I) strains NCDV and B641 and by ascitic fluid containing monoclonal antibodies directed to VP7 of serotype 6 rotavirus. The VMRI strain was not neutralized by either polyclonal or monoclonal antibodies to strain B223 (bovine rotavirus serotype II). Collective data on the neutralization of the VMRI strain with monoclonal antibodies and polyclonal antibodies suggest that this virus is a member of the NCDV group (serotype 6) of rotaviruses (bovine rotavirus serotype I).     

Diphtheria with a difference—a rare corynebacterium fatality with associated apoptotic cell death

A case of infection with Corynebacterium ulcerans (C. ulcerans), resulted in the sudden death of a previously healthy 73-year-old woman. Death from Corynebacterium diphtheriae (C. diphtheriae) infection is well-documented. Fatalities following infection with C. ulcerans are unreported; this would appear to be the first documented death due to such infection.     

Widespread scleredema accompanied with a monoclonal gammopathy in a patient with advanced ankylosing spondylitis

Scleredema is a rare cutaneous mucinosis characterized by chronic diffuse induration of the skin, and it is occasionally associated with a monoclonal gammopathy (MG). Ankylosing spondylitis (AS) is noted to be another, chronic systemic inflammatory disorder of the axial skeleton that may accompany the MG. However, patients with scleredema and AS accompanied with a MG have not been reported in the literature. We here report a 40-yr-old man with scleredema and advanced AS accompanied with a MG of IgA-kappa protein. Widespread, long-standing scleredema has been developed over 10 yrs after the initial manifestation of AS. It is uncertain whether the coexistence of scleredema and AS is more than coincidental.     

Orbital meningioma with a granular cell component in a dog, with extracranial metastasis

A meningioma with a significant component of granular cells is described in the left ocular orbit of a 5-year-old male Golden retriever dog that presented with exophthalmos. The neoplastic mass surrounded the optic nerve. Microscopically, the tumour was characterized by nests of large, round to polygonal cells, variable in size, with eccentric nuclei and abundant eosinophilic cytoplasm, containing PAS-positive granules. In focal areas, cells were smaller and occasionally formed whorl-like structures. Immunohistochemical analysis revealed that neoplastic cells reacted positively for vimentin and, with less intensity, for neuron specific enolase and S-100, whereas they were negative for glial fibrillary acidic protein and cytokeratins. Metastatic growths, formed by similar cells, were seen in the lung and heart.     

Update on counseling the family with a first-degree relative with a congenital heart defect

Updated recurrence risks figures are presented for genetic counseling of families with a congenital heart defect (CHD) in a first-degree relative. Substantial changes are recommended for counseling the family in which a parent has CHD. The risk is much greater if it is the mother rather than the father who has the heart defect. The updated figures for recurrence risks in sibs have been revised, but are not greatly changed. Our central tenet in counseling is to base risk projections on the genetic and teratogenic history in the individual family and pregnancy.     

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report

Background

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture.

Case presentation

A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared.

Conclusions

In conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.

     

Softness discrimination with a tool

The abilities of humans to discriminate the softness of rubber objects of differing compliance with a hand-held tool (a stylus) was measured under experimental conditions that differed as to how the tool was used and the kind of sensory information available. When the subject actively tapped or pressed the compliant objects, they discriminated softness as well by means of a stylus as they did by contacting the objects directly with the fingerpad. Discrimination with the stylus was unaffected by whether the stylus was controlled by one or two fingers. While tapping or pressing a stylus held in a precision grip, the grip force increased before, reached a maximum at the same time as, and decreased in parallel with the compressional force. This relationship was suggestive of anticipatory motor control based on an internal model of the motor system and the physical properties of the object. Discrimination was significantly better when tapping as opposed to pressing the objects with the stylus. This was hypothesized as due to the presence of tactile cues generated by the rapid increase in force rate as the stylus struck and indented the object during tapping. During tapping, the magnitude and rate of compressional force produced by the stylus against the object were greater, the harder the object. An additional cue, possibly kinesthetic, during pressing and tapping was the magnitude of indentation of the specimen by the stylus that was greater, the softer the object. Subjects could discriminate differences on softness by tactile cues alone in the absence of kinesthetic when compliant objects were tapped at approximately the same velocity by the experimenter against a stylus in contact with the subject's passive fingerpad. Discrimination deteriorated if the softer specimen of a pair was tapped with a slightly greater velocity than the harder and not possible if the specimens were pressed against the stylus without generating tactile cues of mechanical contact. In contrast, discrimination was possible during active pressing and unaffected by variations in velocity during active tapping. It is concluded that during active movements, kinesthetic information and knowledge of central efferent commands provide useful cues that are not present during passive touch. These cues allow the observer to discriminate differences in object compliance not confounded by differences in applied velocity.     

Osteosarcoma with a clear-cell component

Summary The reports concerns the light microscopical and ultrastructural findings obtained in three conventional osteosarcomas with an unusually high admixture of clear cells, whose presence appeared to be responsible for the marked change in the histological pattern of these tumours. In the tumours with a prevailing fibroblastic component the clear cells were either irregularly scattered throughout the tumour in the form of small groups, or they formed large groups sharply demarcated against the fusicellular areas of the tumours. In two cases it was shown that their cytoplasm contained exaggerated glycogen deposits accompanied by the formation of glycogen-containing phagolysosomes and occasional empty vacuoles. In the third case the clear cells showed vacuolar degeneration with numerous single-membrane-bound, empty vacuoles. In contrast to the clear-cell chondrosarcoma we did not find S-100 protein in clear cells of our osteosarcomas. Such findings could be particularly significant in the differential diagnosis of bone tumours.