INTRODUCTIONWe aimed to assess the efficacy of fixed dose combination of atorvastatin plus ezetimibe in Indian patients with dyslipidaemia.

METHODSA double-blind study was conducted to assess the effect of fixed dose combination of ezetimibe 10 mg plus atorvastatin 10 mg on lipid profile, oxidised low-density lipoprotein (ox-LDL), high-sensitivity C-reactive protein (hsCRP) and soluble intercellular cell adhesion molecule (sICAM) in dyslipidaemic patients with or at high risk of coronary artery disease, and compare it with atorvastatin 10 mg monotherapy. 30 patients were randomised to receive ezetimibe plus atorvastatin or atorvastatin once daily for four weeks.

RESULTSOf the 30 patients, 10 men and 5 women (mean age 54.3 ± 1.6 years) received ezetimibe plus atorvastatin, while 13 men and 2 women (mean age 53.7 ± 2.8 years) received only atorvastatin. The combination treatment significantly reduced total cholesterol (percentage treatment difference -14.4 ± 6.5, 95% confidence interval [CI] -1.0 to -27.7; p = 0.041) and LDL cholesterol (LDL-C; percentage treatment difference -19.9 ± 6.1, 95% CI -7.4 to -32.4; p = 0.003) compared to atorvastatin monotherapy. 13 patients on combination treament achieved the National Cholesterol Education Program target for LDL-C as compared to 9 patients on atorvastatin monotherapy (p = 0.032). Significant reductions in very low-density lipoprotein cholesterol, triglyceride, ox-LDL and sICAM were observed with combination treatment compared to atorvastatin monotherapy. However, no significant change was seen in high-density lipoprotein cholesterol or hsCRP levels between the two groups.

CONCLUSIONCombination treatment with atorvastatin and ezetimibe had relatively better lipid-lowering and anti-inflammatory efficacy than atorvastatin monotherapy.

Anti-Inflammatory Agents ; therapeutic use ; Anticholesteremic Agents ; administration & dosage ; Atorvastatin Calcium ; Azetidines ; administration & dosage ; C-Reactive Protein ; metabolism ; Double-Blind Method ; Drug Therapy, Combination ; methods ; Dyslipidemias ; drug therapy ; Ezetimibe ; Female ; Heptanoic Acids ; administration & dosage ; Humans ; Hypolipidemic Agents ; therapeutic use ; India ; Intercellular Adhesion Molecule-1 ; metabolism ; Lipoproteins, LDL ; metabolism ; Male ; Middle Aged ; Pyrroles ; administration & dosage ; Treatment Outcome

Purpose: In children overlap of autoimmune hepatitis (AIH) and primary sclerosing cholangitis is labelled as autoimmune sclerosing cholangitis (ASC). The only prospective pediatric study showed a high prevalence of ASC by using endoscopic retrograde cholangiopancreatography. Aims of our study were to find the prevalence of ASC by using magnetic resonance cholangiography (MRC) in AIH and in non-AIH cirrhosis and to compare clinical presentation and outcome of AIH and ASC. Methods: Prospectively we did MRC in 38 children with AIH (cases) and 19 disease controls (Wilson disease). Multiple biliary strictures with proximal dilatation on MRC were taken as definitive changes of ASC. Detail clinical, laboratory parameters, liver histopathology and treatment outcome were recorded. Results: The median age of cases was 11.5 (3–18) years, 22 (57.9%) were girls and 28 (73.7%) were diagnosed as type 1 AIH. MRC was done in 11 children (28.9%) at the time of diagnosis and in 27 (71.1%) after a median follow-up of 2.5 (0.3–10) years. Abnormal MRC changes were seen in 14/38 (36.8%) of AIH and 8/19 (42.1%) of controls. However, definite changes of ASC were present in four (10.5%) children in AIH and none in controls. None of the clinical, laboratory, histological parameters and treatment response were significantly different between ASC and AIH groups. Conclusion The prevalence of ASC in children with AIH was just 10.5%. We suggest MRC in select group with cholestatic features, inflammatory bowel disease and in those who showed poor response to immunosuppression instead of all children with AIH.

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

Purpose: In children overlap of autoimmune hepatitis (AIH) and primary sclerosing cholangitis is labelled as autoimmune sclerosing cholangitis (ASC). The only prospective pediatric study showed a high prevalence of ASC by using endoscopic retrograde cholangiopancreatography. Aims of our study were to find the prevalence of ASC by using magnetic resonance cholangiography (MRC) in AIH and in non-AIH cirrhosis and to compare clinical presentation and outcome of AIH and ASC. Methods: Prospectively we did MRC in 38 children with AIH (cases) and 19 disease controls (Wilson disease). Multiple biliary strictures with proximal dilatation on MRC were taken as definitive changes of ASC. Detail clinical, laboratory parameters, liver histopathology and treatment outcome were recorded. Results: The median age of cases was 11.5 (3–18) years, 22 (57.9%) were girls and 28 (73.7%) were diagnosed as type 1 AIH. MRC was done in 11 children (28.9%) at the time of diagnosis and in 27 (71.1%) after a median follow-up of 2.5 (0.3–10) years. Abnormal MRC changes were seen in 14/38 (36.8%) of AIH and 8/19 (42.1%) of controls. However, definite changes of ASC were present in four (10.5%) children in AIH and none in controls. None of the clinical, laboratory, histological parameters and treatment response were significantly different between ASC and AIH groups. Conclusion The prevalence of ASC in children with AIH was just 10.5%. We suggest MRC in select group with cholestatic features, inflammatory bowel disease and in those who showed poor response to immunosuppression instead of all children with AIH.

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."
Anticonvulsants ; Brain ; Child ; Epilepsy ; Hamartoma ; Humans ; Infant ; Magnetic Resonance Imaging ; Parents ; Puberty, Precocious ; Seizures ; Tuber Cinereum

BACKGROUND: An epidemiological rise of allergic diseases in developing countries raises new challenges. Currently a paucity of data exists describing allergy symptomology and sensitization to common food and aeroallergens in young children from developing countries. OBJECTIVE: To compare changes in symptomology, food allergen sensitization and aeroallergen sensitization in a cross-sectional study of children < 2 years and 2-10 years. METHODS: A total of 192 allergic children (aged < 2 years, 35 children; aged 2-10 years, 157 children) underwent specific IgE (>0.35 kU/L) to common food (egg white, cow's milk, cod fish, wheat, peanut, soya, peanut, and shrimp) and house dust mites (Dermatophagoides pteronyssinus and Blomia tropicalis). RESULTS: In children < 2 years, atopic dermatitis (65.7%) was the most common symptom whereas in children 2-10 years it was rhinoconjunctivitis (74.5%). Higher sensitization rate to eggs (p < 0.01) and cow's milk (p = 0.044) was seen in < 2 years group when compared to the 2-10 years group, but no significant differences for shrimp (p = 0.29), wheat (p = 0.23) and soya (p = 0.057). Interestingly, sensitization to peanut (p = 0.012) and fish (p = 0.035) was significantly decreased in the 2-10 years group. Sensitization to house dust mites (p < 0.01) dramatically increased in the older children. CONCLUSION: Our study supports concept of atopic march from a developing country like Malaysia.
Allergens ; Arachis ; Asia ; Child ; Cross-Sectional Studies ; Dermatitis, Atopic ; Developing Countries ; Eggs ; Humans ; Hypersensitivity ; Immunoglobulin E ; Malaysia ; Milk ; Ovum ; Pyroglyphidae ; Triticum