Manual and oral stereognosis in children with cleft palate, gonadal dysgenesis, pseudohypoparathyroidism, oral facial digital syndrome and Kallman's syndrome.
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Associations between symptom subtypes, life skills, olfactory identification, and neuropsychological ability were investigated in patients with schizophrenia and related to observations of poor personal hygiene and implied functional compromise of orbitofrontal integrity. Twenty-seven men with chronic schizophrenia were assessed using the Positive and Negative Syndrome Scale for Schizophrenia and the Life Skills Profile. Performance on the University of Pennsylvania Smell Identification Test (UPSIT), the Modified Wisconsin Card Sorting Test (MWCST), delayed response/alternation, and memory tasks derived from the Wechsler Memory Scale-Revised (WMS-R) was also compared to that of an age-, sex-, and IQ-matched control group. Patient UPSIT, MWCST, and WMS-R performance was significantly impaired in comparison to controls. Poor UPSIT performance and poor self-care were significantly associated with negative symptoms. Also, UPSIT ability was associated with performance on the MWCST in both patients and controls, whereas an association with performance on the WMS-R was only found in normal subjects rather than in the patients with schizophrenia. The importance of these findings to postulated mechanisms involving prefrontal rather than mediotemporal lobe (MTL) function in schizophrenia are discussed, as is the relevance of the use of smell identification ability to subtype identification and rehabilitative strategies.
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Patients with Kallmann syndrome (KS) exhibit hypogonadotropic hypogonadism and anosmia [Kallmann et al., Am. J. Mental Def., 48 (1944) 203-236] secondary to failure of gonadotropin-releasing hormone (GnRH)-producing neurons to migrate from the olfactory placode to the brain, and to agenesis of the olfactory bulbs. It has been hypothesized that olfactory neurons (ON) from individuals with KS are immature partly on the basis of studies in animals showing that lack of synaptic connection of ON with the olfactory bulb results in expression of immature ON [Schwob et al., J. Neurosci., 12 (1979) 880-883]. To test this assumption, we obtained olfactory tissue samples from two males diagnosed with KS on the basis of medical history and MRI studies. Both patients were anosmic. The functioning of cells isolated from biopsies taken from the upper middle turbinate and septum was studied by measuring changes in intracellular Ca2+ concentration ([Cai]) using dual excitation fluorescence microscopy. Biopsies from both patients yielded cells that morphologically appeared to be ON. Seven of 16 cells that morphologically resembled ON responded with a change in [Cai] upon stimulation with an odorant mixture. These studies show that at least some ON in KS individuals are functionally mature and suggest that complete development of the olfactory bulbs is not required for differentiation of mature human ON.
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Results are described of 86 intracranial operations for the repair of nasal encephalocoele children at the Lahore Neurosurgical Centre in the last 13 years. These midline lesions at the base of the anterior cranial fossa have been considered in the past to be inoperable and even when operable, unpleasantly difficult. The intracranial approach has made it possible to treat this condition satisfactorily with comparatively few complications. Attempts at extra-cranial repair have met little success as they do not take into account the basic embryology and anatomy of the condition and fail to tackle the sac at the patent foramen caecum, the neck of the sac. This paper describes the embryology, anatomy, basic pathology and clinical features of the condition with characteristic X-rays showing the patent foramen caecum and outlines the operative repair.
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