Lectin histochemistry of glycoconjugates in the feline hair follicle and hair

The distribution of glycoconjugate in the feline hair follicle and hair was studied by light and electron microscopic histochemical methods. The hair apparatus was found to contain considerable amounts of complex carbohydrates with different saccharide residues (alpha-D-mannose, beta-D-glucose, alpha-L-fucose, beta-N-acetyl-D-glucosamine). Variations of those were detected in the plasma membrane of the hair follicle cells during the course of their differentiation and keratinization, namely, alph-D-glucose, alpha-L-fucose and beta-N-acetyl-D-glucosamine in the suprabulbar and bulbar regions. The reaction level of sialic acid residues in the plasma membrane decreased in some cell layers during the course of differentiation. The results obtained from the present study indicated that interaction between saccharide residues of neutral carbohydrates and sialyl groups during the anagen phase might contribute to cell keratinization in hair follicles and hairs. It is discussed whether the existence of glycogen in outer root sheath cells might enable these cells to provide other hair apparatus cells with energy when necessary. Moreover, it became obvious from variations in sialyl residue distribution that cell differentiation processes terminate first of all in Huxley's and Henle's layers within the suprabulbar region of the hair follicle, as followed by the hair cortex.     

New' manifestations of BOR syndrome

Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR, branchio-otic (BO), branchio-otic-facial (BOF), and Townes–Brock syndromes. Subsequently, several clinical manifestations have expanded its phenotype. Retrospective analysis of 31 020 families evaluated between January 2, 1982 and December 31, 1996 at the genetic clinics of the University of South Florida, showed seven probands with BOR/?BOR syndrome. Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon. Thus, BOR/?BOR syndrome appears to be a clinically and genetically heterogeneous multiorgan/system entity that manifests itself predominantly during organogenesis. Clinicians and researchers alike should be cognizant of the expanded phenotype and heterogeneity, while in the DNA laboratories the latter will be sorted out.     

Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family

Mobius syndrome (MIM no. 157900) consists of a congenital paresis or paralysis of the VIIth cranial nerve, frequently accompanied by paralysis of other cranial nerves, orofacial and limb malformations, defects of the musculoskeletal system and mental retardation. Although most patients are sporadic cases, familial recurrence is not rare. Different pedigrees suggest different modes of inheritance. We performed linkage analysis in a large family with autosomal dominantly inherited Mobius syndrome, consisting essentially of asymmetric bilateral facial pareses. After exclusion of the candidate region for Mobius syndrome on 13q12.2-q13, we localized the gene to chromosome 3q21-22, indicating genetic heterogeneity of Mobius syndrome. This heterogeneity is further proven by the exclusion of both loci in a second family with Mobius syndrome.      

Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)

Clinical, pathological, and X-ray findings of two brothers with features resembling congenital intrauterine infection-like syndrome are presented. Extensive screening for intrauterine infection was performed. Nevertheless all confirmatory tests were normal. Both brothers showed extensive intra- and extra-cranial calcifications, thrombocytopenia, a septum pellucidum cyst, one-sided paresis of the diaphragm, and metaphyseal changes on X-ray scans resembling intrauterine infection. Within the first days of life, they developed seizures and died from severe cerebral hemorrhage. The MRI scan of the brain showed cerebellar hypoplasia in one of the boys, while the cerebellum had normal size in the other. No indication of a metabolic disorder, especially in calcium metabolism, was identified. Due to the clinical overlap with Hoyeraal-Hreidarsson syndrome, mutations in the DKC1 gene (Xq28) and the hTR gene (RNA component of telomerase on chromosome 3q) have been excluded. The parents are non-consanguineous and further family history was unremarkable. The findings in these boys overlap with features described in congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).     

Rehabilitation after lumbar intervertebral disk operation]

122 patients were admitted 3 months after a lumbar disc operation to a rehabilitation clinic. Conservative treatment during the rehabilitation induced a decrease of low back pain (70 out of 107 patients), of paresis (30/51 patients), and of paresthesia (51/77 patients). More than 20 pre- and post-operative variables were tested with a rank-variance analysis regarding a possible influence on efficacy of the rehabilitation treatment. The success of the conservative treatment measured by improvement of paresis, paresthesia, pain and mobility of lumbar spine was influenced favourably by preoperative paresis (p less than 0.03). Women showed more often than men an improvement of paresis (p = 0.006) immediately after surgery. Patients with a preoperative paresis had a shorter history of radicular symptoms (p = 0.002), an acute onset was seen more often in patients with persistent paresis (p = 0.019). Paresthesia was found more frequently before surgery (p = 0.010) and at begin of rehabilitation (p = 0.006) in patients with paresis compared to patients without paresis. A statistically significant association was also evaluated between decreased lumbar mobility and laminectomy (p = 0.007). Patients with L5/S1 disc operation had a longer duration of radicular symptoms (p = 0.012), a decreased frequency of paresis (p = 0.040), but more often paresthesia (p = 0.001) compared with L4/5 operation.     

Facial paresis after fludarabine treatment for advanced chronic lymphocytic leukaemia

This case report discusses a case with advanced-stage chronic lymphocytic leukaemia (CLL) that presented with facial paresis after fludarabine treatment. A 68-year old patient with CLL (Rai classification, stage IV) was admitted to Gülhane Military Medical Academy for treatment. Fludarabine, 30 mg/m2 daily for 5 days, was given. Right facial paresis was observed at day 8 after administration of fludarabine. The general and psychiatric condition of the patient in myelosuppression did not permit aetiological investigation for paresis. Thereafter, the patient died due to septic shock. Possible aetiological reasons why the patient being treated for advanced-stage CLL had facial paresis after the administration of fludarabine ended are discussed.     

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

Hereditary congenital facial palsy (HCFP) is an autosomal-dominant disorder consisting of paresis or paralysis of the VIIth (facial) cranial nerve. Genetic heterogeneity for this disorder has been suggested based on linkage analysis in two large Dutch families. Two loci have been identified, one on chromosome 3q21.2-q22.1 (HCFP1) and another on chromosome 10q21.3-q22.1 (HCFP2). Here, we report linkage analysis in a large Pakistani family with dominant congenital facial palsy. A region cosegregating with the disorder was identified on the long arm of chromosome 3, which overlaps with the previously identified HCFP1 locus on chromosome 3q21-q22, thus confirming the involvement of this locus in HCFP. The critical region could be reduced from 5.7 to 3.0 cM between the markers D3S3607 and GDB ID:11524500. In addition, mutation analysis on seven candidate genes: KLF15, FLJ40083, PODXL2, TMCC1, PLEXIN-A1, PLEXIN-D1, and GATA-2, was performed. All genes are located within the critical interval of the Dutch HCFP1 family. The genes PODXL2, PLEXIN-D1, GATA-2, and TMCC1 are also located within the smaller critical interval of the Pakistani HCFP family. Based on the results obtained, all seven genes could be excluded as causative genes in HCFP.     

Spastic paresis,glaucoma and mental retardation - a probable autosomal recessive syndrome?

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic paresis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritance.     

Relative resistance of central mechanisms determining the depth and frequency of respiration

Hypercapnia in vagotomized cats can induce not only an increase in the depth of respiration, but also an increase in the frequency of inspiratory volleys. With deepening of anesthesia, the increase in depth of the inspiratory volleys continues, whereas the increase in the respiration rate disappears. These observations point to differences in the central mechanisms controlling the frequency and depth of respiration, of which the former is more susceptible to suprabulbar influences.Laboratory of Restoration and Compensation of Disturbed Functions, Institute of General Pathology and Pathological Physiology, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of Medical Sciences of the USSR A. M. Chernukh.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 85, No. 1, pp. 6–8, January, 1978.     

Variation in cellular tropism between isolates of Equine herpesvirus-1 in Foals

Summary Subtype-1 isolates of Equine herpesvirus-1 (EHV-1) from a quadriplegic horse and from an aborted foetus were compared with each other and with a subtype-2 respiratory isolate. All 3 isolates were detected in the epithelium and macrophages of the respiratory tract. Both the paresis and foetal subtype-1 isolates replicated in the epithelium of the ileum and this correlated with the recovery of virus from faecesin vivo. The paresis subtype-1 isolate also had a predelection for vascular endothelial cells, particularly in the nasal mucosa, but also in the lungs, central nervous system, adrenal and thyroid.In the 9 foals inoculated with the paresis isolate two developed hind limb dysfunction, four developed diarrhoea, and one of these 4 died with an intussusception.The differences between these isolates are discussed in relation to other herpesviruses.With 5 Figures     

Zoster paresis

Herpes zoster (HZ) is essentially a viral disease of the posterior root ganglia and sensory nerve fibers, which presents clinically with vesicular eruption of the skin, radicular pain and sensory changes in the distribution of the affected ganglion. However, motor involvement can be seen as well. If classic cutaneous lesions are present, HZ-related motor paresis is easily diagnosed. Otherwise, the diagnosis may be suspicious, especially if the weakness occurs before the cutaneous lesions have appeared, or weeks after they have subsided. We present a patient with HZ-related motor paresis due to radiculopathy in the cervical segments whose motor symptoms and signs appear as major clinical features.     

Hematology, plasma biochemistry, and urinary excretion of glucose and minerals in dairy cows affected with parturient paresis

The hematology, plasma biochemistry, and urinary excretion of glucose and certain minerals in nine pluriparous Holstein-Friesian dairy cows affected with clinical parturient paresis were reported in this study. For comparison, 12 normal cows from represented herds were selected to match age, parity, and lactation stage of affected cows. Cows affected with parturient paresis had subnormal rectal temperature, bradycardia, and hyperpnea. Rumen motility was reduced in all affected cows. Cows affected with parturient paresis had significantly elevated packed cell volume and significantly increased numbers of leukocytes and neutrophils. In the plasma biochemical analysis, affected cows had significantly elevated glucose, creatinine, blood urea nitrogen, and total protein. Plasma insulin was significantly decreased in affected cows. Plasma calcium, phosphorus, magnesium, and potassium concentrations in affected cows were significantly lower than in normal cows. In the urine analysis, no significant changes were found between the two groups in any of the studied parameters.     

The influence of volition on breathing-swallowing coordination in healthy adults

This research was designed to clarify the role of cortical modulation in the coordination of respiration and swallowing. Time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics were used to evaluate nonnutritive breathing-swallowing coordination (BSC) and swallowing apnea duration (SAD) of 20 healthy adults during 3 conditions. These conditions represented a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation: voluntarily initiated swallows during wakefulness, nonvolitional awake swallows, and reflexively initiated swallows during sleep. Differing proportions of swallows at the cusps between inspiration and expiration were found between the volitional and nonvolitional conditions, irrespective of the level of arousal. SAD was unaltered by condition. In conclusion, BSC is influenced by degree of volition but not by level of arousal. This implies that cortical influence on BSC is limited to conditions in which swallowing is voluntarily initiated and indirectly implicates the recruitment of the supplementary motor or insular cortices. SAD remained stable across conditions and may therefore be considered relatively impervious to suprabulbar influence.     

Seventh cranial nerve paralysis with myokymia during acute co-infection with hepatitis B and delta viruses

A patient with peripheral cranial nerve paresis and bilateral myokymia is described during the course of acute co-infection with hepatitis B and delta viruses. Specific circulating hepatitis B immune complexes were found by electron microscopy concomitantly with the neurological symptoms.     

Expression of amelogenin and effects of cyclosporin A in developing hair follicles in rats

Amelogenin, an enamel matrix protein has been considered to be exclusively expressed by ameloblasts during odontogenesis. However, burgeoning evidence indicates that amelogenin is also expressed in non‐mineralizing tissues. Under the hypothesis that amelogenin may be a functional molecule in developing hair follicles which share developmental features with odontogenesis, this study for the first time elucidated the presence and functional changes of amelogenin and its receptors during rat hair follicle development. Amelogenin was specifically localized in the outer epithelial root sheath of hair follicles. Its expression appeared in the deeper portion of hair follicles, i.e. the bulbar and suprabulbar regions rather than the superficial region. Lamp‐1, an amelogenin receptor, was localized in either follicular cells or outer epithelial sheath cells, reflecting functional changes during development. The expression of amelogenin splicing variants increased in a time‐dependent manner during postnatal development of hair follicles. Amelogenin expression was increased by treatment with cyclosporin A, which is an inducer of anagen in the hair follicle, whereas the level of Lamp‐1 and ‐2 was decreased by cyclosporin A treatment. These results suggest that amelogenin may be a functional molecule involved in the development of the hair follicle rather than an inert hair shaft matrix protein.     

An unusual periaqueductal glioma: A short report

A rare case of periaqueductal glioma with an unusual radiological picture is presented. A forty-five year old male presented with progressive bilateral third and eighth nerve paresis. Magnetic resonance imaging (MRI) revealed a diffuse periaqueductal tumour with sparing of aqueduct and no hydrocephalus. MRI is a useful adjunct in such a situation for contemplating appropriate modality of treatment.     

Patterns of differentiation in various sympathetic efferents induced by hypoxic and by central thermal stimulation in decerebrated rabbits

Summary The patterns of regional changes of sympathetic efferent activity evoked by thermal stimulation of the spinal cord and by arterial and primary tissue hypoxia were investigated in decerebrated, anesthetized and immobilized rabbits. Decerebration was performed either at the mid- or infracollicular level. The responses of the decerebrated rabbits evoked by spinal thermal stimulation were the same as those of intact rabbits, i.e., splanchnic and cardiac sympathetic activity increased and cutaneous sympathetic activity decreased during warming, while the reverse response was elicited by cooling. It is concluded that the typical thermoregulatory response pattern of the sympathetic nervous system can be produced also after the loss of hypothalamic integration, i.e., by integrative mechanisms in the lower brain stem and the spinal cord. In contrast, the responses of decerebrated rabbits to arterial and primary tissue hypoxia differed from those of intact rabbits in that they consisted in an overall activation in all investigated sympathetic branches. It is confirmed by this result that suprabulbar integration is essential for the generation of the inhibitory components in the differential sympathetic responses to hypoxia, which typically consist in cutaneous and cardiac sympathetic inhibition with splanchnic activation during arterial hypoxia and in cutaneous sympathetic inhibition with cardiac and splanchnic sympathetic activation during primary tissue hypoxia.     

Ipsilesional trajectory control is related to contralesional arm paralysis after left hemisphere damage

We have recently shown ipsilateral dynamic deficits in trajectory control are present in left hemisphere damaged (LHD) patients with paresis, as evidenced by impaired modulation of torque amplitude as response amplitude increases. The purpose of the current study is to determine if these ipsilateral deficits are more common with contralateral hemiparesis and greater damage to the motor system, as evidenced by structural imaging. Three groups of right-handed subjects (healthy controls, LHD stroke patients with and without upper extremity paresis) performed single-joint elbow movements of varying amplitudes with their left arm in the left hemispace. Only the paretic group demonstrated dynamic deficits characterized by decreased modulation of peak torque (reflected by peak acceleration changes) as response amplitude increased. These results could not be attributed to lesion volume or peak velocity as neither variable differed across the groups. However, the paretic group had damage to a larger number of areas within the motor system than the non-paretic group suggesting that such damage increases the probability of ipsilesional deficits in dynamic control for modulating torque amplitude after left hemisphere damage.     

Bovine spastic paresis: etiological hypotheses.

Bovine spastic paresis (BSP) is a rare and little-known disease of cattle. The etiology remains unknown. A pathogenesis close to the sub-acute transmissible spongiform encephalopathies (TSEs) has repeatedly been advanced. In order to confirm an infectious origin, intra- and inter-species transmission studies are proposed. A positive result would bring a major advance in knowledge.     

Aarskog syndrome: New oral-facial findings

The Aarskog syndrome is characterized by short stature with typical facial, digital and genital anomalies. A further case is reported which presented with the uncommon finding of ophthalmoplegia and three previously unreported oral-facial findings: enamel dysplasia, a "col" deformity of the anterior mandible and a paresis of the facial muscles innervated by the VII cranial nerve. The implications of genetic heterogeneity in this nosologic classification are discussed.