Goldenhar complex in discordant monozygotic twins: A case report and review of the literature

In 1952, Goldenhar described a pair of monozygotic twins who were discordant for epibulbar dermoids, auricular appendages, malformations of the auricle, and hemifacial microsomia. Eighteen twin pairs have subsequently been described in which at least one member exhibited these manifestations. We report on an additional pair of discordant dichorionic monozygotic male twins. All of the 5 monozygotic twin pairs for which placental information is available have been discordant and 2 of these had dichorionic membranes. The failure of discordant monozygotic twins to be limited to monochorionic pairs argues against the hypothesis that developmental abnormalities arising from the placental vascular anastomoses that are commonly found in monozygotic twins is the probable explanation for the discordant expression of these traits in twins.     

Fibromuscular hyperplasia of the pulmonary artery in sudden infant and perinatal unexpected death

IntroductionThe purpose of this study was to describe cases presenting with fibromuscular hyperplasia of the pulmonary arteries that could belong to the group of sudden infant death syndrome (SIDS) and sudden unexpected perinatal death “gray zone” or borderline cases.MethodsIn a total of 12 cases, eight females and four males, ranging in age from 39 gestational weeks to 93 postnatal days, dying suddenly and unexpectedly, a fibromuscular hyperplasia of the pulmonary artery was detected. Postmortem examinations were requested with a clinical SIDS or sudden unexpected perinatal death. A complete autopsy was performed, including close examination of the brainstem and cardiac conduction system.ResultsHistological examination showed the presence of various degrees of fibromuscular hyperplasia with fibrosis of the right (six cases), left (five cases) or both (one case) pulmonary arteries.ConclusionsIn our cases, fibromuscular hyperplasia of the pulmonary artery alone might or might not have accounted for the sudden deaths, if it had not been for the concomitant presence of hypoplasia of the arcuate nucleus in the brainstem and/or cardiac conduction system abnormalities. Therefore, they were classified as SIDS/sudden unexpected perinatal death gray zone or borderline cases. Necropsy studies of sudden infant and perinatal death should always include an accurate gross and histological examination of the pulmonary arteries, as well as of the brainstem and cardiac conduction system.     

A sensitive PCR method for detecting HCV RNA in plasma pools,blood products,and single donations

Although current manufacturing processes appear to efficiently inactivate hepatitis C virus (HCV), it is possible that contaminated blood products may result from failure of some stage during manufacture or from virus overload of plasma pools used for preparation of products. While antibody screening probably removes the majority of HCV positive donations, some donations which are antibody-negative but HCV positive may be included in pools. The HCV RNA content of plasma pools from paid and voluntary donors was investigated by poly-merase chain reaction (PCR). A sensitive PCR method using a single pair of primers from the 5′ non-coding region of the HCV genome and a “hot-start” was established and shown to be as sensitive as the more conventional nested PCR (which uses two pairs of primers). The majority of pools from paid donors (prescreening) were HCV RNA positive, while all pools from voluntary donors were both antibody and RNA negative. Intravenous immunoglobulins prepared from contaminated pools were RNA negative despite having high antibody levels, indicating satisfactory clearance of the virus during manufacture. The virus load of the pools was at least a thousand-fold lower than that of single donations, possibly as a result of treatment during the production of the pools or the presence of factors in pools which reduce the sensitivity of some part of the PCR assay. The HCV content of a plasma donation was determined as 3.6 × 10⁶ genomes/ml by an end point dilution method. Thus a simple and sensitive PCR assay was established for detecting HCV RNA in plasma pools and blood products. © 1994 Wiley-Liss, Inc.     

Thermo‐Responsive Brush Copolymers by “Grafting Through” Strategy Implemented on the Surface of the Macromonomer Micelles and Their High Emulsifying Performance

In the present study, the synthesis of water‐soluble thermo‐responsive brush copolymers via “graft through” strategy that is conducted on the surfaces of macromonomer micelles and their application as emulsifiers for thermo‐responsive emulsions are reported. Water‐soluble poly(N ,N‐dimethylacrylmide)‐block‐poly(N‐isopropylacrylmide) (PDMA‐b‐PNIPAM) diblock copolymers carrying a hydrophobic polymerizable vinyl group at the end of the PDMA block are synthesized by reversible addition‐fragmentation chain transfer polymerization and click functionalization. Increasing the temperature to above the low critical solution temperature of the PNIPAM block, the macromonomers self‐assemble to core–shell structure micelles with the polymerizable vinyl terminals on the surface of the micelles. Instead of being directly and freely exposed in the bulk water as the hydrophilic group, the hydrophobic vinyl terminals are protected by the partially looped PDMA segments. PMA‐g‐(PDMA‐b‐PNIPAM) brush copolymers with a high molecular weight and a narrow distribution are obtained by radical polymerization of the macromonomers using the potassium peroxydisulfate as initiator. The radical polymerization only proceeds within the single micelle, and intermicellar propagation and/or termination reactions are totally excluded. These brush copolymers feature the thermo‐responsive conformation transition property and high emulsifying performances for the formation of thermo‐responsive emulsion.

     

Double or bifid zygomaticus major muscle: Anatomy,incidence, and clinical correlation

The anatomy of the double or bifid zygomaticus major muscle is investigated in a series of 50 hemifacial cadaver dissections. The double zygomaticus major muscle represents an anatomical variation of this muscle of facial expression. This bifid muscle originates as a single structure from the zygomatic bone. As it travels anteriorly, it then divides at the sub-zygomatic hollow into superior and inferior muscle bundles. The superior bundle inserts at the usual position above the corner of the mouth. The inferior bundle inserts into the modiolus below the corner of the mouth. The incidence of the double zygomaticus major muscle was 34% in the present study, as it was found to be present in 17 of 50 cadaver dissections. This study shows that variation in the individual morphology of the mimetic muscles can be a common finding. Clinically, the double or bifid zygomaticus major muscle may explain the formation of cheek “dimples.” The inferior bundle was observed in several specimens to have a dermal attachment along its mid-portion, which tethers the overlying skin. When an individual with this anatomy smiles, traction on the skin may create a dimple due to this dermal tethering effect. Clin. Anat. 11:310–313, 1998. © 1998 Wiley-Liss, Inc.     

The “drunken honeycomb” feature of pulmonary mucinous adenocarcinoma: A diagnostic pitfall of bronchial brushing cytology

Pulmonary mucinous adenocarcinoma (PMA) is the terminology recently proposed in the new International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society (IASLC/ATS/ERS) International Multidisciplinary Classification of Lung Adenocarcinoma Guidelines for most tumors previously classified as mucinous bronchioloalveolar carcinomas (mBACs). PMA is histologically characterized by lepidic growth and at least some degree of invasive growth of goblet or columnar neoplastic cells with abundant intracytoplasmic mucin. We report here the cytologic features of PMA in a bronchial brushing specimen. The patient is an 84‐year‐old woman with a persistent dense consolidation in the right middle lobe of the lung found on non‐contrast computed tomography (CT) scan. Bronchial brushing smears showed a monotonous population of columnar neoplastic cells forming “drunken honeycomb”‐like cell clusters. The neoplastic cells displayed inconspicuous cytologic atypia. The concurrent transbronchial tissue biopsy and the resection specimen confirmed the diagnosis of PMA. Due to the bland nuclear features, the neoplastic cells in the bronchial brushing specimen were interpreted as benign at the time of the initial diagnosis, demonstrating a diagnostic pitfall of bronchial brushing cytology. A high index of suspicion is recommended when a lung lesion with “drunken honeycomb”‐like cell clusters is encountered in bronchial brushing specimens. The review of the literature regarding the recently designated PMA is presented. Diagn. Cytopathol. 2013. © 2011 Wiley Periodicals, Inc.     

Basic anatomical investigation of semitendinosus and the long head of biceps femoris muscle for their possible use in electrically stimulated neosphincter formation

Anal neosphincter formation with electrically stimulated gracilis muscle is used increasingly for the surgical treatment of fecal incontinence. An alternative to gracilis might be of interest if this muscle is not available. 30 semitendinosus muscles and 15 long heads of biceps femoris were investigated on human cadavers. In particular, the nerve and vascular supply of these muscles was studied, both representing basic factors for muscle transposition. The long head of biceps femoris m. was found to receive its dominant vascular supply from the first and second perforating artery and its nerve supply from one motor branch out of the sciatic nerve, both as described in literature. The examination of semitendinosus m., however, revealed new anatomical aspects in its vascular supply. In all cases semitendinosus m. was found to receive dominant vascular pedicles from the medial circumflex femoral artery close to the ischial tuberosity and the second perforating artery. The nerve supply consisted of two motor branches out of the sciatic nerve. Both muscles fulfilled several basic criterias for transposition to the anus. However, regarding these requirements, semitendinosus offered distinct advantages in comparison with the long head of biceps femoris. Due to its vascular and nerve topography, semitendinosus seems suitable to serve as an alternative to gracilis.     

Metabolic responses in feline “red” and “white” skeletal muscle to shock and ischemia

In order to investigate possible differences in the reaction to hypoxic conditions between “red” and “white” skeletal muscle, cats were subjected to a 2 h period of either hemorrhagic shock or hind limb tourniquet ischemia, and the hypoxia induced changes were studied in the soleus and lateral gastrocnemius muscles. Muscle biopsies were analysed for ATP, CP, glucose, G 6–P and lactate. Using microelectrodes, the resting membrane potential was repeatedly measured. Both experimental models resulted in increased tissue lactate levels and a successive decrease in the membrane potential of both muscles studied. No reduction of the high energy phosphagen content (ATP+CP) occurred in any of the muscles during shock. The tourniquet ischemia resulted in a 40% reduction of the ATP+CP content in the soleus muscle, whereas in the gastrocnemius muscle no significant reduction occurred. A significant correlation was found between the tissue lactate content and the membrane potential under both conditions and in both muscles studied. It is concluded that “red” muscles are more susceptible to metabolic derangement than “white” muscles during total ischemia, whereas during hypovolemia “red” muscles appear to be protected from early hypoxic damage, probably due to a redistribution of skeletal muscle blood flow.     

Teratogenic IgG From Sera of Women With Spontaneous Abortions Seem to Induce Anomalies and Yolk Sac Damage in Rat Embryos. A Possible Method to Detect Abortions of Immunologic Origin

PROBLEM: Spontaneous abortions due to immunological rejection of the embryo may be avoided by immunotherapy with paternal allogeneic leukocytes but there is no appropriate method to detect and differentiate this group of aborters from other groups. METHODS: In previous studies we have demonstrated that in about two-thirds of sera from women with spontaneous abortions the IgG antibodies are responsible (alone or in combination with other factors) for the embryotoxic effects of these sera on cultured rat embryos. We presently cultured 10.5-day-old rat embryos on highly teratogenic serum (“high risk” serum that induced anomalies in more than 50% of the embryos) from women with spontaneous abortions, where the IgG fraction was exchanged with IgG from control sera and vice-versa. We studied by Transmission Electron Microscopy (TEM) the extent of yolk sac damage in comparison to the rate of embryonic anomalies. RESULTS: In cases where IgG antibodies were teratogenic, embryos cultured in control sera with IgG from “high risk” sera exhibited ultrastructural yolk sac damage as well as embryonic anomalies, and the yolk sacs cultured in “high risk” sera with control IgG were normal. In cases in which the IgG exchange did not change the rate of anomalies, as IgG was not teratogenic, yolk sacs from embryos cultured in “high risk” sera remained damaged, while yolk sacs from embryos cultured in control sera after IgG exchange stayed normal. Although no significant difference in total IgG levels was found between the groups, a higher IgG1 level in sera from women with teratogenic IgG was observed in comparison to control women's sera. The obstetrical history of the women with two or more abortions who took part in our study showed that there were more cases of unknown etiology of the abortion in the women from the “high risk” group. CONCLUSIONS: The serum and the IgG fraction from women with habitual abortions can be tested in whole embryo culture to evaluate the embryonic and yolk sac damage. On this basis it may be possible to detect the women in whom the habitual abortions result from immunological rejection.     

Branching projection of the nucleus “k” neurons to the rabbit cerebellar paramedian lobule: a retrograde fluorescent tracing study

The nucleus "k", in the reticular core of the rabbit caudal pons, is divided into a large medial (composed of dorsal k1 and ventral k2) and a small lateral (k3) subdivision. In this study, the nucleus "k" subdivisions were examined in the rabbit with respect to projections to the cortex of rostral (rPML; face-forelimb region) and caudal (cPML; hindlimb region) paramedian lobule of the cerebellum. The retrograde fluorescent labeling method with Fast Blue (FB) and Diamidino Yellow (DY) was used. Numerous single FB or DY labeled neurons were found in defined regions of all nucleus "k" subdivisions bilaterally, with an ipsilateral preponderance. The distribution of these neurons indicated that afferents originating from different nucleus "k" subdivisions terminated in overlapping regions within the rPML and the cPML rather than in separate domains. Apart from this, double FB + DY labeled neurons (n = 104) were intermingled within a common region of single labeling, but exclusively on the ipsilateral side. Such neurons occupied predominantly the central and lateral regions of the caudal two thirds of the k1 subdivision, and were scattered in the caudal half of k2 as well as throughout the entire rostrocaudal extent of the k3 subdivision. The size of labeled perikarya varied from 20 to 40 microm in diameter. The number of neurons with branching axons was considerably lower than those with single projections to the rPML and the cPML. It amounted to about 3% in k1 and k3, and 2% in the k2 subdivision. However, this population may form an intralobular link between two somatotopically non-corresponding PML regions. The present study provides a morphological basis for further investigations for comparison with other species using both anatomical and electrophysiological methods, also with respect to other connections of the nucleus "k".     

Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes

The Prader-Willi (PWS) and Angelman syndromes (AS) share the same apparent cytogenetic and molecular lesions of 15q11-13 and yet exhibit distinct clinical phenotypes. The etiology of PWS or AS appears to depend on the parental origin of the aberrant chromosome 15. Substantial clinical overlap has not been reported between deletion-positive PWS and AS patients. In the present study, we report the clinical, cytogenetic, and molecular findings in three AS patients. The first patient is a mentally retarded woman with a visible deletion of 15q11-13 with typical craniofacial, behavioral, and neurologic changes of AS. This patient is hyperphagic, and she is moderately obese for her height. Her hands and feet are small. These manifestations are more characteristic of PWS and not of AS. The molecular studies showed deletions of maternal origin for five distal PWCR loci. The most proximal locus, D15S18, was not deleted. These findings are identical to those found in our third AS patient who does not have any PWS features. To the best of our knowledge, this is the first report of concurrence of hyperphagia with consequent obesity and the AS phenotype in a patient with a del 15(q11-13) of maternal origin. These clinical findings suggest that overlap in the symptoms of PWS and AS can occur. Our second AS patient presents with atypical molecular findings in that he cannot be classed into any of the three proposed sub-groups of AS patients and may be representative of a fourth sub-group of AS patients.     

Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex

We have studied 4 infants with oculo-auriculovertebral (OAV) complex or Goldenhar “syndrome” who also had severe axial anomalies, including multiple vertebral segmentation errors affecting the thoracic and the lumbar spine. One of them presented a previously unreported pattern of vertebral and rib anomalies similar to spondylocostal dysostosis. Three patients had twins, and all 4 patients had other associated non-skeletal malformations which affected the midline, i.e., cleft lip and palate, esophageal atresia with tracheoesophageal fistula, and ventricular septal defect. The broad extent of the axial anomalies, the association with midline defects and twinning, and the combination in the same patient of two distinct conditions support the concept that OAV complex is a polytopic developmental field defect arising during blastogenesis. © 1993 Wiley-Liss, Inc.     

“Dedifferentiated” chordoma: A case report of the cytomorphologic findings on fine-needle aspiration

Chordomas are relatively rare neoplasms occurring at both ends of a neuro axis. The majority follow an indolent course of multiple local recurrences, ultimately leading to the patient's death. Rare examples have been associated with sarcomatous components, usually resembling malignant fibrous histiocytoma, fibrosarcoma, or osteosarcoma. These tumors have followed a more aggressive course, with poor response to treatment and death following a relatively short time course. Cytologic material from a single case obtained by fine-needle aspiration revealed a high-grade malignancy composed of short atypical spindle cells containing modest amounts of granular cytoplasm. Physaliphorous cells were absent, and myxoid material was not a significant component of the smears. Rare polygonal cells with foamy cytoplasm were identified. Histologic study revealed a high-grade spindle-cell sarcoma in which were scattered small aggregates of vacuolated cells resembling physaliphorous cells. Anaplastic giant cells were present, and the overall appearance of the neoplasm resembled a malignant fibrous histiocytoma. Despite the radiographic appearance of a conventional chordoma in this case, the cytologic findings were indicative of a high-grade sarcoma consistent with a dedifferentiated chordoma. Diagn. Cytopathol. 1998;19:378–381. © 1998 Wiley-Liss, Inc.     

Anatomical study of the synovial plicae of the hip joint

Observations and measurements of the synovial plicae of the hip joints were made on 63 embalmed cadavers. The cadavers were divided equally among three age groups (fetuses, children, and adults). Our observations showed that the plicae appeared in two forms (flat and villous) and were mainly confined to the external surface of the lower medial part of the acetabular labrum (labral plicae), the base of the ligament of the head of the femur (ligamental plicae), and along the reflecting line of the synovial membrane on the base of the femoral neck (neck plicae). The ligamental plicae were well padded with a fibroelastic pad of fat filling the acetabular fossa, and the neck plicae were far away from the articular surfaces of the joint; as a result, neither was likely to be injured or entrapped during joint movements. The labral plicae were larger than the ligamental or neck plicae and had an incidence of 73.8% in the fetal group. The fetal plicae were found only after the fetal age of 5 months. In nine cases of the child and adult groups, the labral plicae extended between the articular surface of the femoral head and the lower part of the acetabulum during medial rotation of the thigh. When the thigh was rotated laterally, the plicae in six of the same cases could be returned to their original positions. In the remaining three cases, there was continual impingement. Clin. Anat. 10:235-238, 1997. © 1997 Wiley-Liss, Inc.     

Grafting of Polystyrene onto Poly(butyl acrylate) and Polystyrene Backbones Using Functionalized Methacrylates

Summary: Grafting of terminal epoxide‐functionalized polystyrene onto poly[styrene‐co‐(2‐hydroxyethyl methacrylate)] or poly[(butyl acrylate)‐co‐(2‐hydroxyethyl methacrylate)] backbones was carried out by coupling reactions catalyzed by boron trifluoride. The functionalized backbones were prepared by free radical copolymerization of 2‐hydroxyethyl methacrylate (HEMA) with styrene or butyl acrylate. For the synthesis of terminal functionalized polymer chains a side reaction of the TEMPO‐mediated free radical polymerization of methacrylates could be used successfully to convert TEMPO‐terminated polymers into terminal epoxide‐functionalized polymers by the use of glycidyl methacrylate. The number of epoxide units attached to the backbone was directly related to the TEMPO concentration during the disproportionation reaction. Taking P(S‐co‐HEMA) as well as P(BuA‐co‐HEMA) backbones in coupling reactions with different epoxy‐functionalized polystyrenes in the presence of boron trifluoride, graft polymers with up to 7 and 37 side chains per backbone were produced.

Molecular weight distribution curves of a linking experiment between P(BuA‐co‐HEMA) backbones and epoxide‐functionalized polystyrene side chains.     

Vascular engineering of the vertebral venous drainage system

The recent distribution infra-cranial distribution of malignant cerebral neoplasms has prompted a search for possible routes to explain such spread. The intimate connections of the intracerebral veins with the vertebral venous system, the close proximity of cerebral neoplasms to the ventricular system, and the postural hemodynamics of a largely valveless drainage system have all added another dimension to the vertebral venous circulation described by Batson. This flow pattern ascended from the sacrum to the skull. An inferior “reverse” flow is now proposed by which neoplastic cells may extend into the cervical and mediastinal lymph nodes, breast, liver, or lung.     

Hypopituitarism and septooptic “dysplasia” in first cousins

Although familial forms of hypopituitarism are known, to our knowledge familial septooptic “dysplasia” in association with hypopituitarism has not been reported. We describe two first cousins with panhypopituitarism, one of whom had septooptic dysplasia. We discuss the possibility that septooptic dysplasia-hypopituitarism may be inherited as an autosomal dominant, or recessive, or multifactorial trait.     

A study of the antigenicity and immunogenicity of a new hepatitis B vaccine using a panel of monoclonal antibodies

The successful prevention of infection with hepatitis B virus (HBV) has been achieved by vaccination with purified hepatitis B surface antigen (HBsAg). The ability of a novel synthetic HBV envelope antigen vaccine (Hep B-3, Hepagene ™; Medeva), which contains part of the pre-S1 and the complete pre-S2 regions and the whole of the S region and was produced in a mammalian cell line, to induce antibodies required for a protective immune response is of importance. In this study, the use of a panel of monoclonal antibodies known to bind to epitopes within the common “a” determinant has demonstrated that the epitopes present on this new vaccine are comparable to those found with plasma-derived HBsAg. In addition, the epitope specificity of the antibodies induced by this vaccine was examined and shown to accord well with previous results obtained using both a plasma-derived vaccine and a recombinant vaccine prepared in yeast. J. Med. Virol. 54:1–6, 1998. © 1998 Wiley-Liss, Inc.