Hearing loss due to the mitochondrial A1555G mutation in Italian families

A 68-year old woman presented with a frontal fibrosing alopecia and lesions of the buccal mucous membranes typical for lichen planus. Postmenopausal frontal fibrosing alopecia (PFFA) has recently been described by Kossard as a distinct entity characterized by progressive recession of the frontotemporal and parietal hair margins leading to permanent alopecia in the form of a symmetrical band-like area of scanning in postmenopausal women. The histology (perifollicular lymphocytic infiltration and fibrosis, increase of apoptosis of hair follicle keratinocytes) is indistinguishable from that of lichen planopilaris. The localization and age- and sex-related characteristics of PFFA are not sufficient to delineate it as a discrete entity from lichen planopilaris. Our observation of oral lichen planus in a postmenopausal woman with frontal fibrosing alopecia points to the possibility that PFFA actually may represent a variant of lichen planopilaris with a predilection for the frontotemporal hairline. Other variants of lichen planopilaris include multifocal lichen planopilaris, disseminated lichen planopilaris (Lassueur-Graham-Little syndrome), lichenoid pseudopelade, and any combination of these ("mixed type"). An effective therapy of PFFA is not known. Also, treatment of lichen planopilaris forms in which fibrosis predominates over inflammation is similarly problematic, but the natural course of these diseases seems to be self-limited.     

Corrected formula for the calculation of the electrical heart axis

Right brain damage results in a variety of cognitive and behavioural dysfunctions. Mutism however, has been described only with left or bihemispheric lesions involving the parietal lobe. We report an elderly man who had left faciobrachial monoparesis and concomitant mutism. His auditory-verbal comprehension was intact. MRI revealed a right parietal infarct involving the cortical and subcortical regions. Recovery from mutism during the course of treatment was abrupt and complete with no residual dysarthria. A possibility of diaschisis or impaired modulation of left hemispheric function due to right cerebral infarct, presenting as conversion reaction, is proposed for this rare association.     

Antibodies to hair follicles in alopecia areata

Although alopecia areata is suspected to be an autoimmune disease, no direct evidence of an altered immune response to components of the hair follicle has been reported. We studied whether antibodies to normal human anagen scalp hair follicles are present in individuals with alopecia areata. Thirty-nine alopecia areata sera and 27 control sera were tested by Western immunoblotting for antibodies to 6 M urea-extractable proteins of normal anagen scalp hair follicles. At serum diluted 1:80, all alopecia areata subjects (100%), but only 44% of control individuals, had antibodies directed to one or more antigens of approximately 57, 52, 50, 47, or 44 kD. The incidence of antibodies to individual hair follicle antigens in alopecia areata was up to seven times more frequent than in control sera and their level up to 13 times greater and was statistically significant for all five antigens. Tissue specificity analysis indicated that these antigens were selectively expressed in hair follicles. These findings indicate that individuals with alopecia areata have abnormal antibodies directed to hair follicle antigens, and support the hypothesis that alopecia areata is an autoimmune disease.     

Digital agnosia and lesions of the parietal lobe

130 patients with focal brain damage have been submitted to non-verbal finger identification tasks. The results of this research can be summarized as follows: -when bilateral finger agnosia is studied with non-verbal tasks, no difference can be shown between right and left parietal lesions; -in left brain damaged patients the bilateral form of finger agnosia is generally due to large lesions involving the parietal lobe; -in right brain damaged patients the unilateral form of finger agnosia is almost always due to lesions centered on the parietal region.     

Successful treatment with topical PUVA of nodular cutaneous plasmacytosis associated with alopecia of the scalp

We obtained a successful response to PUVA therapy in a 51-year-old Japanese man who had multiple nodules of the trunk, extremities and scalp along with polyclonal hypergammaglobulinaemia; the scalp lesions were associated with extensive alopecia. Examination of skin biopsies showed a dense infiltrate of mature plasma cells in the dermis and hair follicles; no systemic disease or functional involvement of other organs was detected. The clinical and histological findings were compatible with cutaneous plasmacytosis and treatment with topical PUVA gradually reduced the size and number of the lesions.     

Surveying the counselling needs of families with disablement in the United Arab Emirates

We have previously described spontaneous but reversible hair loss that clinically and histologically resembles human alopecia areata in a colony of C3H/HeJ mice. Alopecia areata in humans is associated with antibodies to hair follicles. This study was conducted to determine whether C3H/HeJ mice with hair loss have a similar abnormal antibody response to hair follicles. Eighteen C3H/HeJ mice with alopecia, 12 unaffected littermates, and 15 control mice were examined for circulating antibodies to C3H/HeJ anagen hair follicles by indirect immunofluorescence and against extracts of isolated C3H/HeJ and human anagen hair follicles by immunoblotting. Using both procedures, antibodies to anagen hair follicles were present in all C3H/HeJ mice with alopecia but in none of the control mice. The antibodies were also present in some unaffected C3H/HeJ littermates but were absent in mice of an unrelated strain with inflammatory skin disease and alopecia, indicating that their appearance did not result from the hair loss. These antibodies reacted to hair follicle-specific antigens of 40-60 kDa present in murine and human anagen hair follicles. These antigens were also reactive with human alopecia areata antibodies. Some of the antibodies in both C3H/HeJ mice and humans with alopecia areata reacted to antigens of 44 and 46 kDa, which were identified as hair follicle-specific keratins. This study indicates that C3H/HeJ mice with hair loss have circulating antibodies to hair follicles similar to those present in humans with alopecia areata. These findings confirm that these mice are an appropriate model for human alopecia areata and support the hypothesis that alopecia areata results from an abnormal autoimmune response to hair follicles.     

In vivo proton magnetic resonance spectroscopy for metabolic changes in brain during chronic cerebral vasospasm in primates

OBJECTIVE: To study how neuronal cells are affected by development of chronic cerebral vasospasm after subarachnoid hemorrhage (SAH), the changes in neuronal metabolites during development of vasospasm were evaluated by in vivo localized proton magnetic resonance spectroscopy (MRS) in primates. METHODS: SAH was produced by introduction of a blood clot around the right middle cerebral artery and the right side of the circle of Willis. MRS experiments were performed before SAH and on Days 7 and 14 after SAH. Multislice magnetic resonance images were obtained to locate the volume of interest (1.0 cm3) in the bilateral parietal regions. The peak areas for choline compounds, the sum of creatine and phosphocreatine, and N-acetyl-aspartate were calculated. RESULTS: Angiograms revealed approximately 50% reduction of vessel caliber for the right main cerebral arteries on Day 7. Magnetic resonance imaging revealed no apparent cerebral infarction, even in the spasm-side hemisphere. MRS revealed a significant (P < 0.05) reduction of the N-acetyl-aspartate/creatine and phosphocreatine ratio on Days 7 and 14 and a significant increase in the choline/creatine and phosphocreatine ratio on Day 7, in the spasm-side parietal region. In the sham-operated animals, there were no significant changes in these ratios in the bilateral parietal region on Days 7 and 14 after the operation. CONCLUSION: The results suggested that the development of cerebral vasospasm after SAH caused ischemic injury in a subpopulation of neuronal cells, even when no apparent cerebral infarction was shown. Proton MRS may be useful to evaluate how neuronal cells are affected by the ischemic insult during development of vasospasm in clinical situations.     

Lateralization of emotionality in right parietal cortex of the rat.

Lesions of right parietal cortex in the rat increase activity in the open field compared with left parietal lesions, especially after section of the corpus callosum. Left or right motor or medial frontal cortex lesions do not have a lateralized effect. This evidence of a localized asymmetry between the cerebral hemispheres strongly implies that right parietal cortex has a role in emotionality in this species. Our findings suggest a functional similarity to right parietal cortex in man. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Dominant inheritance of optic pits

We report a patient with concurrent chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and alopecia universalis. A dramatic improvement in strength accompanied the administration of prednisone, although no regrowth of hair was noted. CIDP and alopecia universalis are two relatively rare autoimmune disorders. The simultaneous occurrence of these disorders suggests a common pathogenetic mechanism, including the possibility of shared antigens between peripheral nerve myelin and the hair follicle.     

Motor Areas Beyond Motor Performance: Deficits in Serial Prediction Following Ventrolateral Premotor Lesions.

Previous functional MRI findings have indicated that a premotor-parietal network is involved in the perceptual processing of sequential information. Given that premotor functions have traditionally been restricted to behaviors requiring motor or sensorimotor computations, the goal of the present patient study was to further investigate whether the lateral premotor cortex is critical in purely perceptual sequencing. Patients with either ventral premotor or inferior parietal lesions, in addition to patients with prefrontal lesions and age- and gender-matched healthy controls, were tested during the processing of temporal, object-specific, and spatial sequences. Results revealed that premotor patients as well as parietal patients showed significantly higher error rates than did healthy controls on all sequence tasks. In contrast, prefrontal patients showed no behavioral deficits. These findings support the significance of the ventrolateral premotor cortex, in addition to parietal areas, in nonmotor (attentional) functions. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Nonscarring hair loss disorders: the basis for recognition and treatment

Hair loss can be assessed objectively by examining a hair pull sample for stage of growth and hair shaft diameter, getting an estimate of average daily hair loss, and mapping scalp hair density. The history of the loss, the clinical picture, and the growth stage and diameter of the hair when lost all help to establish the type of loss. Hair regrowth occurs without treatment in most types of hair loss. There is as yet no effective treatment for pattern or senescent alopecia, although in women the loss can now be retarded somewhat.     

Episodic pain associated with a tumor in the parietal operculum: a case report and literature review

We report a young woman suffering brief painful episodes in her right arm which sometimes spread to the whole right side of her body. The episodes were initially rare, but over 13 months they became increasingly frequent until occurring every 20 min. Neurological examination was normal. Magnetic resonance imaging revealed a lesion in the white matter of the parietal operculum. Lesions in the parietal operculum associated with persisting thalamic pain or loss of pain sensation have been reported, but rarely with episodic pain. Since episodic painful attacks have been described in association with various suprathalamic lesions, we conclude that paroxysmal pain attacks may be another consequence of the disturbance of the normal pattern of thalamocortical connections to the second sensory cortical area by a lesion, in our case, of the subcortical area of the parietal operculum.     

Hair diseases

A few common causes of hair loss account for the vast majority of cases. A well-directed history and simple physical examination is often sufficient to make a diagnosis. Laboratory testing is often unnecessary. A scalp biopsy can be useful, but only if processed and interpreted correctly. Androgenetic alopecia, alopecia areata, senescent alopecia, telogen effluvium, traction alopecia, trichotillomania, and cosmetic hair damage are common causes of non-scarring alopecia. Discoid lupus erythematosus, lichen planopilaris, and central, centrifugal scarring alopecia are the most common forms of scarring hair loss.     

Visual control of the arm, the wrist and the fingers: pathways through the brain

Sperry and his colleagues had shown that section of the corpus callosum blocks the normally strong interocular transfer of visual learning in chiasma sectioned monkeys. Although interhemispheric transfer of learning was blocked, monkeys could be readily trained to use any combination of eye and hand in a task that required rapid visually guided responses. Sperry suggested that there must be a subcortical pathway linking sensory to motor areas of the brain. We tested monkeys in a task which required them to orient their wrist and fingers correctly in order to remove a morsel of food from a slotted disc. Animals in which we made lesions of the dorsal extrastriate visual areas of the parietal lobe were profoundly impaired in performing this task, but showed no deficit in visual discrimination learning. A monkey with an extensive lesion of the ventral, temporal lobe extrastriate areas showed no deficit in the visuomotor task but was profoundly impaired in visual discrimination learning. Lesions of peri-arcuate cortex, a major cortical target of parietal lobe visual areas, produced only a mild deficit which was motor in character. We suggest that the visuomotor deficit caused by parietal lobe lesions is brought about by depriving the cerebellum of its cortical visual input.     

Multiple sclerosis: basic immunology

A 24-year-old male presented with a 4 year history of a crusted erythematous papular eruption of the scalp and external auditory meati and a 12 month history of painful perianal ulceration. A diagnosis of Langerhans cell histiocytosis was made and confirmed by skin histology. Extensive investigation revealed no systemic involvement. Rapid improvement occurred after intravenous 2-chlorodeoxyadenosine but relapse of perianal lesions occurred within 5 months. Local radiotherapy to the perianal region resulted in a complete remission sustained over 12 months.     

Effects of parietal cortex lesions on spatial problem solving in the rat

The Maier 3-table task was used to examine spatial representations in rats with lesions of the parietal cortex. Some animals had anteriorly placed lesions, some posteriorly placed in cortical areas, sometimes regarded as 'parietal' in earlier studies. After 5 days of familiarization, animals were given 18 days of testing on the standard Maier task. Both parietal groups were initially impaired, but reached the same level of performance as controls by the end of the test period. Learning occurred both within and between sessions for the anterior group, but only between sessions for the posterior group. There was no major functional differentiation apparent on this task between the two 'parietal' areas. Rate of exploration increased in both parietal groups across test sessions as task performance improved. It is argued that the change in exploratory activity across sessions in parietal groups may reflect the adoption of a compensatory strategy which improved performance, but that improvement could also have been due to neural changes, as structures, such as the frontal cortex or hippocampus, assume some functions normally mediated by the parietal area.     

Investigation of the actions and antagonist activity of some polyamine analogues in vivo

Complete or partial congenital absence of hair (congenital alopecia) may occur either in isolation or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal-recessive mode of inheritance (MIM 203655). As yet, no gene has been linked to isolated congenital alopecia, nor has linkage been established to a specific region of the genome. In an attempt to map the gene for the autosomal recessive form of the disorder, we have performed genetic linkage analysis on a large inbred Pakistani family in which affected persons show complete absence of hair development (universal congenital alopecia). We have analyzed individuals of this family, using >175 microsatellite polymorphic markers of the human genome. A maximum LOD score of 7.90 at a recombination fraction of 0 has been obtained with locus D8S258. Haplotype analysis of recombination events localized the disease to a 15-cM region between marker loci D8S261 and D8S1771. We have thus mapped the gene for this hereditary form of isolated congenital alopecia to a locus on chromosome 8p21-22 (ALUNC [alopecia universalis congenitalis]). This will aid future identification of the responsible gene, which will be extremely useful for the understanding of the biochemistry of hair development.     

Treatment of alopecia areata

Some individuals question whether any treatment is effective in severe alopecia areata. Certainly many patients, especially those with mild disease, experience spontaneous hair regrowth; however, results of double-blind studies clearly indicate that some treatments do promote hair regrowth even in those with extensive disease. Some patients never show either spontaneous or treatment-related hair regrowth; others experience hair regrowth only while maintained on treatment, repeatedly losing hair within a few weeks of discontinuing treatment and regrowing it within several weeks after restarting treatment. Some patients who have been responsive to treatment may experience exacerbation of their disease such that even high-dose systemic steroids do not prevent the development of alopecia universalis. Some treatments appear to work on some patients some or all of the time, but no treatment appears to work on all patients all of the time. We would suggest a few practical points that we find useful: To maximize the potential for cosmetic hair growth in alopecia areata that is extensive or flaring, treat the entire scalp instead of "chasing" patches. Do not change any topical treatment sooner than 3 months after starting it; early regrowth may first be present at 3 months. Cosmetic regrowth may take a year or more to achieve. Maintenance treatment increases the likelihood of maintenance of cosmetic hair growth, but patches of hair loss may still come and go. Atopic patients who experience seasonal hair loss may benefit (ie, have less severe hair loss flares or respond more readily to topical therapy) by using an antihistamine or mast cell stabilizer prophylactically. Whether one looks at the therapeutic cup as half full or half empty, most patients urge us to continue to try to find safe, effective long-term treatments for this disease.     

Growth factors and cytokines in hair follicle development and cycling: recent insights from animal models and the potentials for clinical therapy

Hair growth disorders, particularly those that lead to hair loss (alopecia), are common and frequently cause significant mental anguish in affected individuals. The mechanisms underlying the majority of these disorders are unknown. However, insights into the specific molecular mechanisms of hair follicle development and cycling have recently been made using animal models, particularly mice that over- or underexpress a specific gene for a growth factor or cytokine. Other animal models have demonstrated that certain growth factors and cytokines can prevent much of the alopecia caused by cancer chemotherapeutic agents. These animal models have confirmed the importance of growth factors and cytokines in hair follicle development and cycling, and have formed the foundation for potential clinical therapy of hair growth disorders, particularly alopecia. Nevertheless, important questions concerning their efficacy, safety and delivery will need to be answered before successful clinical therapy of any hair growth disorder becomes a reality.