Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

OBJECTIVES:

Conflicting data from studies on the potential role of multidrug resistance 1 gene polymorphisms in inflammatory bowel disease may result from the analysis of genetically and geographically distinct populations. Here, we investigated whether multidrug resistance 1 gene polymorphisms are associated with inflammatory bowel diseases in patients from Rio de Janeiro.

METHODS:

We analyzed 123 Crohn''s disease patients and 83 ulcerative colitis patients to determine the presence of the multidrug resistance 1 gene polymorphisms C1236T, G2677T and C3435T. In particular, the genotype frequencies of Crohn''s disease and ulcerative colitis patients were analyzed. Genotype-phenotype associations with major clinical characteristics were established, and estimated risks were calculated for the mutations.

RESULTS:

No significant difference was observed in the genotype frequencies of the multidrug resistance 1 G2677T/A and C3435T polymorphisms between Crohn''s disease and ulcerative colitis patients. In contrast, the C1236T polymorphism was significantly more common in Crohn''s disease than in ulcerative colitis (p = 0.047). A significant association was also found between the multidrug resistance 1 C3435T polymorphism and the stricturing form of Crohn''s disease (OR: 4.13; p = 0.009), whereas no association was found with penetrating behavior (OR: 0.33; p = 0.094). In Crohn''s disease, a positive association was also found between the C3435T polymorphism and corticosteroid resistance/refractoriness (OR: 4.14; p = 0.010). However, no significant association was found between multidrug resistance 1 gene polymorphisms and UC subphenotypic categories.

CONCLUSION:

The multidrug resistance 1 gene polymorphism C3435T is associated with the stricturing phenotype and an inappropriate response to therapy in Crohn''s disease. This association with Crohn''s disease may support additional pathogenic roles for the multidrug resistance 1 gene in regulating gut-microbiota interactions and in mediating fibrosis. Understanding the effects of several drugs associated with multidrug resistance 1 gene variants may aid in the selection of customized therapeutic regimens.     

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)

OBJECTIVE:

To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy''s disease.

METHODS:

Ten patients (from 7 families) with a genetic diagnosis of Kennedy''s disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in the androgen receptor gene.

RESULTS:

Mean patient age was 37.6 years and mean number of CAG repeats 47 (44-53). Tremor was present in 8 (80%) patients and was predominantly postural hand tremor. Alcohol responsiveness was detected in 7 (88%) patients with tremor, who all responded well to treatment with a β-blocker (propranolol).

CONCLUSION:

Tremor is a common feature in patients with Kennedy''s disease and has characteristics similar to those of essential tremor.     

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations

Background

Parkinson''s disease is a genetically complex disease with mixed mode of inheritance. Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson''s disease in sibships from North America.

Objective

To make a thorough assessment of the SPR gene region in sporadic Parkinson''s disease.

Methods

A linkage study in 122 European sibship families with five microsatellite and 17 single nucleotide polymorphism (SNP) markers in and around the SPR gene region, and an association analysis in 340 sporadic cases of Parkinson''s disease and 680 control subjects from Germany with 40 SNPs. Linkage was evaluated by non‐parametric linkage scores and genotypic or haplotype association was tested by regression analysis, assuming different risk effect models.

Results

Significant LOD scores between 2 and 3 were obtained at the two SPR‐flanking markers D2S2110 and D2S1394 and seven SNP markers around the SPR gene. We found the previously reported promoter SNP rs1876487 also significantly associated with age of onset in our sib pair families (p‐value 0.02). One strong linkage disequilibrium (LD) block of 45 kb including the entire SPR gene was observed. Within this LD block all 14 inter‐correlated SNPs were significantly associated with Parkinson''s disease affection status (p‐value 0.004).

Conclusions

DNA polymorphisms in a highly intercorrelated LD block, which includes the SPR gene, appear to be associated with both sporadic and familial Parkinson''s disease. This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson''s disease.     

Attenuation of neuropsychiatric symptoms and caregiver burden in Alzheimer's disease by motor intervention: a controlled trial

OBJECTIVE:

To analyze the effects of motor intervention on the neuropsychiatric symptoms of Alzheimer''s disease and on the caregivers'' burden.

DESIGN:

This is a controlled trial evaluating the effects of a motor intervention program on the neuropsychiatric symptoms.

SETTING:

The intervention was performed on community patients from two university centers specializing in physical exercise for the elderly.

SUBJECTS:

Patients with Alzheimer''s disease were divided into two groups: sixteen received the motor intervention and sixteen controls (five controls were excluded because of clinical intercurrences).

INTERVENTIONS:

Aerobic exercises (flexibility, strength, and agility) and functional balance exercises were conducted over six months for 60 minutes three times per week.

MAIN MEASURES:

Psychopathological features of patients were evaluated with the Neuropsychiatric Inventory and Cornell Scale for Depression in Dementia. Caregivers were evaluated using the Neuropsychiatric Inventory-Distress and Burden Interview. A two-way analysis of variance (ANOVA) was applied to observe interactions (pre- vs. post-intervention; participants vs. controls).

RESULTS:

Patients from the intervention presented a significant reduction in neuropsychiatric conditions when compared to controls (Neuropsychiatric Inventory: F∶11.12; p = 0.01; Cornell Depression scale: F∶11.97; p = 0.01). The burden and stress of caregivers responsible for patients who participated in the intervention significantly decreased when compared to caregivers responsible for controls (Neuropsychiatric Inventory-Distress: F: 9.37; p = 0.01; Burden Interview: F: 11.28; p = 0.01).

CONCLUSIONS:

Aerobic exercise was associated with a reduction in the neuropsychiatric symptoms and contributed to attenuate the caregivers'' burden. However, the researchers were not blinded to the patient''s intervention status, which constitutes an important limitation of this study.     

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

Background

We and others recently identified the gene underlying PARK8 linked Parkinson''s disease (PD). This gene, LRRK2, contains mutations that cause an autosomal dominant PD, including a mutation, G2019S, which is the most common PD causing mutation identified to date. Common genetic variability in genes that contain PD causing mutations has previously been implicated as a risk factor for typical sporadic disease.

Methods

We undertook a case‐control association analysis of LRRK2 in two independent European PD cohorts using 31 tagging single nucleotide polymorphisms (tSNPs) and five potentially functional SNPs. To assess the structure of this locus in different populations, we have performed linkage disequilibrium (LD) analysis using these variants in a human diversity panel.

Results

We show that common genetic variability in LRRK2 is not associated with risk for PD in the European populations studied here. We also show inter‐population variability in the strength of LD across this locus.

Conclusions

To our knowledge this is the first comprehensive analysis of common variability within LRRK2 as a risk factor for PD.     

The TNF-�� -308 polymorphism may affect the severity of Crohn's disease

OBJECTIVE:

The goal of this project was to analyze the association between Crohn''s disease, its clinical features, and the tumor necrosis factor alpha (TNF-α) -308 polymorphism.

METHODS:

This is a case-control and cross-sectional study that enrolled 91 patients with Crohn''s disease and 91 controls. Patients with Crohn''s disease were characterized according to the Montreal Classification, along with their clinical and surgical treatment history. Analysis of the TNF-α -308 polymorphism was performed using a commercial kit. A stratified analysis was applied using an OR (odds ratio) with a 95% confidence interval. The chi-square and Fisher''s exact tests were utilized for analysis of the association between the polymorphism and the clinical features of Crohn''s disease.

RESULTS:

The low producer predicted phenotype was present in 76.9% of Crohn''s disease cases and 75.8% of controls (OR 0.94 [0.45-1.97]). The TNF2 allele and the high producer predicted phenotype were more frequent among patients with Crohn''s disease penetrating behavior (p = 0.004). The TNF2 allele and the high producer predicted phenotype were also associated with a history of colectomy (p = 0.02), and the TNF2 allele was associated with small bowel resection (p = 0.03).

CONCLUSIONS:

The TNF-α -308 polymorphism appears to affect the severity of the disease. However, TNF-α -308 polymorphism does not appear to be important for the susceptibility in the development of Crohn''s disease.     

Fournier's ganrene in the HIV era

Background

Fournier''s gangrene is a devastating condition that affects mostly patients whose immunity has been reduced. There is increasing evidence for increasing incidence of the disease in those with HIV disease.

Objective

To evaluate the presentation, bacteriology and outcome of Fournier''s gangrene in our area in recent times in view of the high prevalence in Nairobi and its environs.

Results

One hundred and forty six patients were treated for Fournier''s gangrene during the study period; all were male. They had a mean age of 38.6 years (range 2 months – 86 years). HIV infection was the most common associated underlying illness (16.4 %), followed by diabetes mellitus and alcoholism (11%).

Conclusions

HIV infection is emerging as leading predisposing factor and has overtaken diabetes in predisposing for Fournier''s gangrene in Kenyatta National Hospital.     

Interleukin 10 (IL10) and transforming growth factor β1 (TGFβ1) gene polymorphisms in persistent IgE-mediated cow's milk allergy

OBJECTIVES:

The aim of this cross-sectional study was to evaluate whether interleukin 10 (IL10) and transforming growth factor β1 (TGFβ1) gene polymorphisms were associated with persistent IgE-mediated cow''s milk allergy in 50 Brazilian children. The diagnostic criteria were anaphylaxis triggered by cow''s milk or a positive double-blind, placebo-controlled food challenge. Tolerance was defined as the absence of a clinical response to a double-blind, placebo-controlled food challenge or cow''s milk exposure.

METHOD:

The genomic DNA of the 50 patients and 224 healthy controls (HCs) was used to investigate five IL10 gene polymorphisms (-3575A/T, -2849A/G, -2763A/C, -1082G/A, -592C/A) and one TGFβ1 polymorphism (-509C/T).

RESULTS:

Among the five IL10 polymorphisms analyzed, homozygosis for the G allele at the -1082 position was significantly higher in the patients compared with the healthy controls (p = 0.027) and in the persistent cow''s milk allergy group compared with the healthy controls (p = 0.001).

CONCLUSIONS:

Homozygosis for the G allele at the IL10 -1082G/A polymorphism is associated with the persistent form of cow''s milk allergy.     

Effects of a multidisciplinary cognitive rehabilitation program for patients with mild Alzheimer's disease

OBJECTIVE:

To evaluate the effects of a multidisciplinary rehabilitation program on cognition, quality of life, and neuropsychiatric symptoms in patients with mild Alzheimer''s disease.

METHOD:

The present study was a single-blind, controlled study that was conducted at a university-based day-hospital memory facility. The study included 25 Alzheimer''s patients and their caregivers and involved a 12-week stimulation and psychoeducational program. The comparison group consisted of 16 Alzheimer''s patients in waiting lists for future intervention.

INTERVENTION:

Group sessions were provided by a multiprofessional team and included memory training, computer-assisted cognitive stimulation, expressive activities (painting, verbal expression, writing), physiotherapy, and physical training. Treatment was administered twice a week during 6.5-h gatherings.

MEASUREMENTS:

The assessment battery comprised the following tests: Mini-Mental State Examination, Short Cognitive Test, Quality of Life in Alzheimer''s disease, Neuropsychiatric Inventory, and Geriatric Depression Scale. Test scores were evaluated at baseline and the end of the study by raters who were blinded to the group assignments.

RESULTS:

Measurements of global cognitive function and performance on attention tasks indicated that patients in the experimental group remained stable, whereas controls displayed mild but significant worsening. The intervention was associated with reduced depression symptoms for patients and caregivers and decreased neuropsychiatric symptoms in Alzheimer''s subjects. The treatment was also beneficial for the patients'' quality of life.

CONCLUSION:

This multimodal rehabilitation program was associated with cognitive stability and significant improvements in the quality of life for Alzheimer''s patients. We also observed a significant decrease in depressive symptoms and caregiver burden. These results support the notion that structured nonpharmacological interventions can yield adjunct and clinically relevant benefits in dementia treatment.     

Clinical profile of Parkinson's disease in the Gumei community of Minhang district,Shanghai

OBJECTIVE:

We examined the demographic and clinical profiles of Parkinson''s disease in Shanghai, China, to assist in disease management and provide comparative data on Parkinson''s disease prevalence, phenotype, and progression among different regions and ethnic groups.

METHODS:

A door-to-door survey and follow-up clinical examinations identified 180 community-dwelling Han-Chinese Parkinson''s disease patients (104 males, 76 females).

RESULTS:

The average age at onset was 65.16±9.60 years. The most common initial symptom was tremor (112 patients, 62.22%), followed by rigidity (38, 21.11%), bradykinesia (28, 15.56%) and tremor plus rigidity (2, 1.11%). Tremor as the initial symptom usually began in a single limb (83.04% of patients). The average duration from onset to mild Parkinson''s disease (Hoehn-Yahr phase 1–2) was 52.74±45.64 months. Progression from mild to moderate/severe Parkinson''s disease (phase≥3) was significantly slower (87.07±58.72 months; p<0.001), except for patients presenting initially with bradykinesia (53.83±24.49 months). Most patients (149/180, 82.78%) took levodopa with or without other drugs. The Hamilton Anxiety Scale revealed symptoms of clinical anxiety in 35 patients, and the Hamilton Depression Scale revealed depressive symptoms in 88 patients. The depressed or anxious subgroup (123 patients) demonstrated a significantly younger age at onset (55.54±7.68 years) compared with the overall mean (p<0.05).

CONCLUSION:

Unilateral limb tremor was the most common initial symptom, and motor function deteriorated slowly over ≈4−9 years. Earlier-onset patients experience greater psychiatric dysfunction.     

Coats' disease in Tanzania: first case report and literature review

Background

Coats'' disease is an exudative retinal detachment with vascular telangiectasis occurring mostly in male children, the age group most affected by retinoblastoma.

Objectives

Compare the differential diagnoses of Coats'' diseaseEstablish recommendation to early disease detection.

Materials and Methods

A 3-year-old female child was referred to Muhimbili National Hospital (MNH), Tanzania, in September 2011. She had presented at the peripheral hospital with gradual onset of left eye leukocoria for 1 year and pain for 2 months. B-scan showed a mass in the left eye. A clinical diagnosis of retinoblastoma was made. Left eye enucleation was performed; the patient was referred to MNH, with the enucleated specimen.

Results

Brain and orbits scan revealed no residual tumour. The globe measured 2x1.8 cm, the optic nerve stump measured 3 mm. A whitish mass filled the vitreous, with complete retinal detachment. Microscopy showed retinal gliosis, detachment with sub retinal PAS positive exudates, vacuolation and cholesterol clefts. Foreign body giant cells were present; telangiectatic thin-walled blood vessels were identified. Clinico-pathological findings were of stage 4 Coats'' disease.

Conclusion

Coats'' disease is an important differential diagnosis of retinoblastoma. Delay to detect Coats'' disease leads to vision loss which necessitates eye enucleation as was in this child.     

Moyer's method of mixed dentition analysis: a meta-analysis

Background

Mixed dentition analysis forms an essential part of an orthodontic assessment. Moyer''s method which is commonly used for this analysis is based on data derived from a Caucasian population. The applicability of tables derived from the data Moyer used to other ethnic groups has been doubted. However no meta-analyses have been done to statistically prove this.

Objective

To assess the applicability of Moyer''s method in different ethnic groups.

Study design

A meta-analysis of studies done on other populations using Moyer''s method.

Method

The seven articles included in this study were identified by a literature search of Medline (1966–June 2003) using predetermined key words, inclusion and exclusion criteria. 195 articles were reviewed and meta-analyzed.

Results

Overall the correlation coefficients were found to be borderline in variation with a p-value of 0.05. Separation of the articles into Caucasian and Asian groups also gave borderline p-values of 0.05.

Conclusion

Variation in the correlation coefficients of different populations using Moyer''s method may fall either side. This implies that Moyer''s method of prediction may have population variations. For one to be sure of the accuracy while using Moyer''s method it may be safer to develop prediction tables for specific populations. Thus Moyer''s method cannot universally be applied without question.     

Sjögren's syndrome: An underdiagnosed condition in mixed connective tissue disease

OBJECTIVE:

To determine the prevalence of sicca symptoms, dry eye, and secondary Sjögren''s syndrome and to evaluate the severity of dry eye in patients with mixed connective tissue disease.

METHODS:

In total, 44 consecutive patients with mixed connective tissue disease (Kasukawa''s criteria) and 41 healthy controls underwent Schirmer''s test, a tear film breakup time test, and ocular surface staining to investigate dry eye. In addition, the dry eye severity was graded. Ocular and oral symptoms were assessed using a structured questionnaire. Salivary gland scintigraphy was performed in all patients. Classification of secondary Sjögren''s syndrome was assessed according to the American-European Consensus Group criteria.

RESULTS:

The patients and controls had comparable ages (44.7±12.4 vs. 47.2±12.2 years) and frequencies of female gender (93 vs. 95%) and Caucasian ethnicity (71.4 vs. 85%). Ocular symptoms (47.7 vs. 24.4%) and oral symptoms (52.3 vs. 9.7%) were significantly more frequent in patients than in controls. Fourteen (31.8%) patients fulfilled Sjögren''s syndrome criteria, seven of whom (50%) did not have this diagnosis prior to study inclusion. A further comparison of patients with mixed connective tissue disease with or without Sjögren''s syndrome revealed that the former presented significantly lower frequencies of polyarthritis and cutaneous involvement than did the patients without Sjögren''s syndrome. Moderate to severe dry eye was found in 13 of 14 patients with mixed connective tissue disease and Sjögren''s syndrome (92.8%).

CONCLUSIONS:

Sjögren''s syndrome, particularly with moderate to severe dry eye, is frequent in patients with mixed connective tissue disease. These findings alert the physician regarding the importance of the appropriate diagnosis of this syndrome in such patients.     

The effect of beta-blockade on myocardial remodelling in Chagas' cardiomyopathy

OBJECTIVE:

Chagas'' disease has spread throughout Latin America because of the high rate of migration among these countries. Approximately 30% of Chagas'' patients will develop cardiomyopathy, and 10% of these will develop severe cardiac damage leading to heart failure. Beta-blockade improves symptoms and survival in heart failure patients; however, its efficacy has not been well established in Chagas'' disease. We evaluated the role of carvedilol in cardiac remodeling and mortality in a Chagas'' cardiomyopathy animal model.

METHODS:

We studied Trypanosoma cruzi infection in 55 Syrian hamsters that were divided into three groups: control (15), infected (20), and infected + carvedilol (20). Animals underwent echocardiography, electrocardiography, and morphometry for collagen evaluation in ventricles stained with picrosirius red.

RESULTS:

The left ventricular diastolic diameter did not change between groups, although it was slightly larger in infected groups, as was left ventricular systolic diameter. Fractional shortening also did not change between groups, although it was slightly lower in infected groups. Collagen accumulation in the interstitial myocardial space was significantly higher in infected groups and was not attenuated by carvedilol. The same response was observed in the perivascular space. The survival curve showed significantly better survival in the control group compared with the infected groups; but no benefit of carvedilol was observed during the study. However, in the acute phase (up to 100 days of infection), carvedilol did reduce mortality.

CONCLUSION:

Carvedilol did not attenuate cardiac remodeling or mortality in this model of Chagas'' cardiomyopathy. The treatment did improve survival in the acute phase of the disease.     

Upper airway surface tension but not upper airway collapsibility is elevated in primary Sjögren's syndrome

Study Objectives:

Primary Sjögren''s syndrome is an autoimmune disease typified by xerostomia (dry mouth) that, in turn, could lead to increased saliva surface tension (γ) and increased upper airway collapsibility. Fatigue, of unknown etiology, is also frequently reported by patients with primary Sjögren''s syndrome. Recent preliminary data indicate a high prevalence of obstructive sleep apnea in healthy-weight women with primary Sjögren''s syndrome. Concurrent research highlights a significant role of γ in the maintenance of upper airway patency. The aim of this study was to compare oral mucosal wetness, saliva γ, and upper airway collapsibility during wake and sleep between women with primary Sjögren''s syndrome and matched control subjects.

Setting:

Participants slept in a sound-insulated room with physiologic measurements controlled from an adjacent room.

Participants:

Eleven women with primary Sjögren''s syndrome and 8 age- and body mass index-matched control women.

Interventions:

Upper airway collapsibility index (minimum choanal-epiglottic pressure expressed as a percentage of delivered choanal pressure) was determined from brief negative-pressure pulses delivered to the upper airway during early inspiration in wakefulness and sleep.

Measurements and Results:

Patients with primary Sjögren''s syndrome had significantly higher saliva γ (“pull-off” force method) compared with control subjects (67.2 ± 1.1 mN/m versus 63.2 ± 1.7 mN/m, P < 0.05). Upper airway collapsibility index significantly increased from wake to sleep (Stage 2 and slow wave sleep) but was not different between groups during wake (primary Sjögren''s syndrome versus controls; 36.3% ± 8.0% vs 46.0 ± 13.8%), stage 2 sleep (53.1% ± 11.9% vs 63.4% ± 7.2%), or slow-wave sleep (60.8% ± 12.2% vs 60.5% ± 9.3%).

Conclusions:

Despite having a significantly “stickier” upper airway, patients with primary Sjögren''s syndrome do not appear to have abnormal upper airway collapsibility, at least as determined from upper airway collapsibility index.

Citation:

Hilditch CJ; McEvoy RD; George KE; Thompson CC; Ryan MK; Rischmueller M; Catcheside PG. Upper airway surface tension but not upper airway collapsibility is elevated in primary Sjögren''s syndrome. SLEEP 2008;31(3):367-374.     

Clinical Characteristics and Management of Benign Transient Non-Organic Ileus of Neonates: A Single-Center Experience

Purpose

The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung''s disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung''s disease. The aim of this study is to evaluate the clinical characteristics and proper treatment of BTNIN.

Materials and Methods

A retrospective review was made on the clinical data of 19 neonates who were treated for BTNIN between January 2008 and December 2011 at a single facility.

Results

Abdominal distension occurred in every patient (19/19). Other common symptoms included emesis (5/19), explosive defecation (5/19), and constipation (4/19). The vast majority of patients (15/19) experienced the onset of symptoms between 2 and 4 weeks of age. Radiograph findings from all of the patients were similar to Hirschsprung''s disease. A barium study showed a transition zone in 33.4% (6/18) of the patients. However, rectal biopsy revealed ganglion cells in the distal rectum in 88.2% (15/17) of the patients, and anorectal manometry showed a normal rectoanal inhibitory reflex in 90% (9/10). All patients responded well to conservative treatment. Symptoms disappeared at the mean age of 4.9±1.0 months, and the abdominal radiographs normalized.

Conclusion

BTNIN had an excellent outcome with conservative treatment, and must be differentiated from Hirschsprung''s disease. A rectal biopsy and anorectal manometry were useful diagnostic tools in the differential diagnosis.     

Wilson's disease: an analysis of 28 Brazilian children

OBJECTIVES:

Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson''s disease.

METHODS:

Twenty-eight children (twelve females and sixteen males) with Wilson''s disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 – 240 months). The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study.

RESULTS:

The median age at diagnosis was 11 years (2 – 18 years). Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit.

CONCLUSIONS:

Family screenings associated with early treatment are important in preventing Wilson''s disease symptoms and potentially fatal disease progression. The study suggests that Wilson''s disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far.     

Pattern of facial palsy in a typical Nigerian specialist hospital

Background

Data on incidence of facial palsy is generally lacking in Nigeria.

Objective

To assess six years'' incidence of facial palsy in Murtala Muhammed Specialist Hospital (MMSH), Kano, Nigeria.

Method

The records of patients diagnosed as facial problems between January 2000 and December 2005 were scrutinized. Data on diagnosis, age, sex, side affected, occupation and causes were obtained.

Results

A total number of 698 patients with facial problems were recorded. Five hundred and ninety four (85%) were diagnosed as facial palsy. Out of the diagnosed facial palsy, males (56.2%) had a higher incidence than females; 20–34 years age group (40.3%) had a greater prevalence; the commonest cause of facial palsy was found out to be Idiopathic (39.1%) and was most common among business men (31.6%). Right sided facial palsy (52.2%) was predominant. Incidence of facial palsy was highest in 2003 (25.3%) and decreased from 2004.

Conclusion

It was concluded that the incidence of facial palsy was high and Bell''s palsy remains the most common causes of facial (nerve) paralysis.