Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family

To determine the effect of RGP contact lens solution on corneal epithelial wound healing, the following solutions including Soaclens, Contopharma GPHCL-S, Boston condition, Bausch & Lomb condition and Duracare were applied on corneal epithelial wounds of enucleated pig eyes to evaluate possible cytotoxicity of RGP solutions. The wounds, created by excimer laser, were 1.5mm in diameter with 70 microns in depth. The eyeballs were maintained in an incubator using a perfusion system. After twenty-four hours, a score from 3 to 0 was given depending on the size of defect from absence of healing to completely healing. The average scores of the epithelial defect in each group are: Soaclens: 0.38 +/- 0.74; GPHCL-S: 0.63 +/- 0.52; Boston condition: 0.38 +/- 0.52; Bausch & Lomb condition: 0.25 +/- 0.46 and Duracare: 2.38 +/- 0.52. Most of the epithelial wounds healed with one exception, the eyeballs which received Duracare still had large defects. The difference of scores between Duracare and other groups are statistically significant. Duracare, which contains benzalkonium chloride, may be responsible for retarded wound healing.     

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

We describe a form of hereditary motor and sensory neuropathy (HMSN) affecting four siblings in an Italian family of Gypsy ethnic origin with both clinical and pathological findings very reminiscent of the HMSN Lom type (HMSNL), recently described in a group of Bulgarian Gypsies. Genetic analysis demonstrated linkage to chromosome 8q24 and conserved haplotypes in the HMSNL region, thus confirming that this is the first Gypsy family outside the Balkans suffering from the same disorder.     

Cardiorespiratory failure and diabetic autonomic neuropathy: a case report

Advanced autonomic neuropathy in diabetic patients is associated with homeostatic cardiovascular response. Sympathetic compensation diminishes and the organism becomes more susceptible to the depressant effect of certain drugs. The incidence of undesirable cardiovascular effects (bradycardia, hypotension and sudden heart failure) during anesthesia is higher in such patients. We report the case of a woman with diabetes who suffered two episodes of sudden heart failure after brachial plexus block through the axilla, followed one year later by sudden heart failure during general anesthesia for kidney transplantation. The possible contributing mechanisms are described.     

Male involvement in family planning: a case study spanning five generations of a south Indian family

Neospora caninum is a coccidial protozoan parasite that infects a large range of mammals including dogs, cats, mice, and cattle. Morphologically, N. caninum appears indistinguishable from Toxoplasma gondii, although they are genetically distinct. To date there have been no reported cases of this infection in humans, although nonhuman primates may be susceptible to infection. Inbred A/J mice develop no clinical and little histologic evidence of infection in spite of a high-dose inoculum of N. caninum. Splenocytes obtained from infected mice proliferate in vitro in response to both N. caninum and T. gondii-soluble antigen. A transient state of T cell hyporesponsiveness to parasite antigen and mitogen was observed at Day 7 p.i. This downregulatory response could be partially reversed by the addition of the nitric oxide antagonist LNMMA, but not antibody to IL-10. Mice infected with N. caninum produce significant quantities of IL-12 and IFN gamma, most evident shortly after infection. In vivo, antibody to IL-12 is able to neutralize immune resistance to the parasite. Moreover, in vivo depletion of IFN gamma with antibody renders the mice susceptible to infection. These observations suggest that N. caninum induces a T cell immune response in the infected host that is at least partially mediated by IL-12 and IFN gamma.     

Scenario of chronic dermatophytosis: an Indian study

It is widely accepted that tumor invasion and metastasis are the primary causes for the lethal clinical outcome of cancers. In recent years, attention has been drawn to PCNA (Proliferating Cell Nuclear Antigen) to predict the prognosis of some cancers. In the present paper, we have studied anti-PCNA antibody PC10 in supraglottic cancer by means of immunohistochemistry using paraffin-embedded sections, to demonstrate its clinical significance in this type of malignancy. Twenty-two patients with supraglottic cancer, including T1 (5 cases), T2 (13 cases) and T4 (4 cases) with N- (14 cases) and N+ (8 cases), were investigated for the PCNA expression. The percentages of PCNA positive cells were divided into three groups: < 25%, 25-75%, > 75%, with the range from 10.6 to 95.2%. Results showed that PCNA was well correlated with lymph node metastasis, and appeared to have an inverse correlation with histopathological grades. In this small group, we did not find that PCNA was correlated with T stages and tumor size. However, compared with other T-stages and tumor sizes, the correlation between lymph node metastasis and PCNA seemed to have more clinical significance in T2-stage and in tumors larger than 2 cm. PCNA could be used as a marker in predicting the clinical outcome in supraglottic cancers. An analysis on a large scale is anticipated.     

Decompression sickness presenting as forearm swelling and peripheral neuropathy: a case report

Bleeding stomal varices is a rare complication of portal hypertension. We report the case of a cirrhotic patient, with a history of colonic adenocarcinoma, who had recurrent bleeding stomal varices. Treatment with transjugular intrahepatic portosystemic shunt and stomal varice embolization was performed because failure of medical treatment of portal hypertension and sclerotherapy. Twenty six months later only one stomal hemorrhage was noted. This suggests that transjugular intrahepatic portosystemic shunt and stomal varice embolization is effective in case of recurrent bleeding of stomal varices.     

The Ifi 200 genes: an emerging family of IFN-inducible genes

The biological activities of interferons (IFNs) are mediated by IFN-induced proteins. One family is encoded by several structurally related genes located on murine chromosome 1 (Ifi 200 cluster) and three homologous genes (MNDA, IFI 16 and AIM2) located on human chromosome 1 as well, within a linkage group highly conserved between mouse and human. All the proteins of this family contain at least one copy of a conserved 200 amino acid domain, in addition to other regions that are different or missing among the various family members. Conservation of the 200 amino acid segment, therefore, may be responsible for a common function, while individually expressed domains may afford other tissue- or cell-specific functions. The data available demonstrate that at least two members of the Ifi 200 protein family, p202 and p204, inhibit cell proliferation in vitro. Moreover, high constitutive levels of p204 expression impair normal embryo development in transgenic animals. Here, we will review the principal features of murine and human proteins belonging to this family and their function in the cell growth-regulatory activities mediated by IFNs.     

The RAF family: an expanding network of post-translational controls and protein-protein interactions

Biotinylated dextran amine was injected unilaterally into dorsal regions of the telencephalon of the weakly electric fish Gymnotus carapo in order to study the afferent and efferent connections of specific dorsal regions with ventral regions of the telencephalon and with other regions of the central nervous system. Efferent pathways from the dorsolateral area of the telencephalon project ipsilaterally to the anterior hypothalamic nucleus, the ventral thalamus and magnocellular tegmental nucleus, whose axons reach the spinal cord. Anterograde labeling showed that the central division of the dorsal telencephalon sends efferent projections through the lateral forebrain bundle towards the ipsilateral lateral and medial preglomerular nucleus, the pretectal nucleus, the optic tectum and the dorsal torus semicircularis, regions that are all involved in the processing of electrosensory and/or multisensory information. In addition, when biotinylated dextran amine was injected into the dorsal torus semicircularis, retrogradely labeled neurons were observed in the dorsocentral area of the telencephalon. The dorsocentral area is also a target of the extra-telencephalic afferents originating from rostral, lateral and medial regions of preglomerular complex. Within the telencephalon, neurons of many ventral subdivisions project ipsilaterally to the dorsocentral area. The dorsocentral, dorsolateral and dorsomedial areas are connected ipsilaterally and reciprocally. The dorsocentral area is reciprocally connected with its contralateral homologue through the anterior commissure.     

Hereditary pancreatitis: report of a family from Turkey

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder in which transport of the cationic amino acids lysine, arginine and ornithine is defective at the basolateral membrane of the epithelial cells in the intestine and renal tubules. LPI is unusually common in Finland, but patients have been described on all continents. Linkage analysis in Finnish LPI families recently assigned the LPI gene locus to a 10 cM interval between markers D14S72 and MYH7 on the long arm of chromosome 14. In the present study linkage analysis of LPI families from six different non-Finnish populations strongly suggests genetic homogeneity in LPI. Peak lod scores were obtained at the chromosomal area between D14S72 and MYH7 with the same markers as in the Finnish families. The non-Finnish families showed no linkage disequilibrium except in an Italian family cluster, whereas strong allelic association in the Finnish families implies that LPI in Finland is caused by a founder mutation.     

Renal tubular acidosis and deafness: report of a large family

The syndrome of distal renal tubular acidosis (dRTA) and sensorineural deafness has been reported in consanguineous families and is believed to be inherited in an autosomal recessive pattern. All affected patients also have nephrocalcinosis. We report here a family with 6 of 12 children affected with this syndrome. The parents are unaffected and are not blood related. This is the largest family described to date with distal renal tubular acidosis and sensorineural deafness.     

Pilar dysplasia: an early marker of giant axonal neuropathy

BACKGROUND: Giant axonal neuropathy is an autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system. Sensoromotor neuropathy develops around 3 years of age. Children have particular faces with curly hair. Characteristic pilar anomalies occur early and have diagnostic value. CARE REPORT: An Algerian boy born to consanguineous parents (first cousins) had language retardation and gait disorders developed around 3 years of age. At 9 years, the child was in a cachetic state with valgus feet, amyotrophy and diminished muscle force predominating distally, ataxia, areflexia, sensoromotor neuropathy and nystagmus. Skin tropism was altered with pale, thin and dry skin, cold, cyanotic limbs and thick curly hair. Electrophysiology explorations showed signs of chronic sensoromotor polyneuropathy with axonal predominance. Brain and spinal MRI revealed cerebellar atropy and signs of leukodystrophy. The spinal tap was normal. A neuromuscular biopsy confirmed the diagnosis of giant axonal neuropathy. At examination the hair was thick with reduced refrangibility and a pseudo-pili torti aspect. DISCUSSION: Giant axonal neurpathy is characterized by anomalous organization of the cytoskeleton of intermediary filaments in different types of cells. Hair anomalies occur early, before onset of neurological signs. At gross examination the hair is thick and curly, sometimes crimped and pale. Examination of the pilar shaft shows trichorrhexis nodosa, scalloped fringes and lack of internal structure. On the molecular level, there is a reduction in the number of bisulfur bridges which could be the cause of defective keratin filament alignement. Pathogenicaly, the pilar anomalies are considered as a direct manifestation of defective keratin organization characteristic of the disease.     

Information contents of drug advertisements: an Indian experience

OBJECTIVE: To critically analyze the drug information contained in Indian pharmaceutical advertisements. DESIGN: Analysis of pharmaceutical advertisements supplied by drug representatives (DRs) to prescribers from July 1, 1995, to June 30, 1996. SETTING: A university-affiliated urban teaching hospital in India. PARTICIPANTS: 585 pharmaceutical ad pamphlets. MAIN OUTCOME MEASURES: The ads supplied by DRs to physicians in different clinical departments of the hospital were collected. These were distributed to different systems/categories and a special reference to fixed-dose drug combinations was given. The drug information contained in these ads was evaluated by using a checklist, framed by incorporating the World Health Organization ethical guidelines for medicinal drug promotion and some relevant items from other studies. RESULTS: The most frequently occurring ads were for antimicrobial agents. The ads on fixed-dose drug combinations constituted 37.9% of the total. More than 85% of the ads mentioned the generic name, brand name, contents, and pharmaceutical dosage forms, as well as the name and address of the company. The information concerning adverse effects, precautions, contraindications, warnings, major interactions, ingredients known to cause problems, pharmacology, drug overdose, references, drug storage, and cost was present in less than 40% of these ads. CONCLUSIONS: There has been inadequate information in pharmaceutical ads supplied by DRs to the physicians in India. The current scenario could be improved by formulating some definite legislative guidelines for the minimum level of information to be included in pharmaceutical ads and adhering to that legislation.     

Pfeiffer syndrome: report of a family and review of the literature

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals, accessory epiphyses lateral to the interphalangeal joint of the great toes, and normal intelligence. To our knowledge, this is the first family in which the syndrome is almost totally confined to the head and feet--it spares the upper limbs except for partial skin syndactyly between the fingers--and the third family showing inheritance through three successive generations suggesting an autosomal dominant mode of inheritance. The published papers are reviewed and the clinical and x-ray signs are tabulated.     

Acute intermittent familial ataxia: report of a new family

INTRODUCTION. Acute intermittent familial ataxia is a rare disorder with autosomal dominant inheritance and unknown etiology which usually in childhood or adolescence. CASE 1. A 33-years-old woman who suffered from giddiness, gait ataxia, dysarthria and somnolence episodes. These episodes lasted between 4 and 72 hours. They generally occurred within a framework of emotional or physical stress. The following tests were performed: hemogram and biochemistry, blood and urine toxicology, immunological tests, cerebrospinal-fluid study, electrocardiogram, electroencephalogram, trunk and visual evocated potentials, cerebral computed tomography and cerebral magnetic resonance imaging. None of them gave significative results. CASE 2. A 12-years-old boy, son of the previous woman, who suffered from somnolence, gait ataxia and dysarthria with acute beginning. The same tests than in the above case were performed together with metabolic studies. There were no pathological findings in this case, either. The symptoms disappeared gradually in 6 days. His familial history led to a diagnosis of acute intermittent familial ataxia. A year later he suffered from a similar disorder and he was immediately treated with acetazolamide. The symptoms disappeared in 2 hours. CONCLUSIONS. Acute intermittent familial ataxia is a disorder of difficult identification. It can be easily confused with other periodical ones, because its diagnosis has to be based on the clinical findings and on the familial history. For this purpose, a therapeutic test with acetazolamide can be useful, since in most cases a spectacular clinical improvement has been observed.     

Peripheral neuropathy: an often-overlooked cause of falls in the elderly

Peripheral neuropathy is common in the elderly and results in impairments in distal proprioception and strength that hinder balance and predispose them to falls. The loss of heel reflexes, decreased vibratory sense that improves proximally, impaired position sense at the great toe, and inability to maintain unipedal stance for 10 seconds in three attempts all suggest functionally significant peripheral neuropathy. Physicians can help their patients with peripheral neuropathy to prevent falls by teaching them and their families about peripheral nerve dysfunction and its effects on balance and by advising patients to substitute vision for the lost somatosensory function, correctly use a cane, wear proper shoes and orthotics, and perform balance and upper extremity strengthening exercises.     

Aarskog syndrome: report of a family with review and discussion of nosology

Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.     

Assessment of adiposity in an Indian population: familial correlations

Familial correlations for five measures of adiposity were assessed using data from 473 nuclear families residing in the Chittoor district of Andhra Pradesh, India. Fat patterning, measured as the ratio of trunk to extremity subcutaneous fat, and the ratio of the subscapular to the sum of the subscapular and suprailiac skinfolds, and three measures of generalized fatness: body mass index, the sum of six skinfolds and the sum of three trunk skinfolds were analyzed. Maximum likelihood estimates of the familial correlations were obtained for each phenotype, after adjusting for the effects of (1) age within sex, and (2) current levels of energy intake and expenditure, and age within sex. Hypotheses regarding sex-specific, and generational differences in these correlations were assessed for each phenotype, under both adjustment schemes. The strength and pattern of the familial correlations for the three measures of generalized fatness were markedly influenced by the specific adjustments applied to the data. In contrast, the familial correlations for the fat patterning phenotypes were quite similar under the two adjustment schemes. Comparison of our results with previously published data indicates that the familial correlations for a subset of these adiposity measures may be heterogeneous across populations.     

Nevoid basal-cell syndrome: literature review and case report in a family

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.