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Biomedical subjects

J Amir

Publications and source records attributed to J Amir.

At least 19 recordsLinked to original sources
PubMed2005

Giant congenital melanocytic naevus in association with hepatic melanin deposits.

UNLABELLED: This report describes a neonate with a giant congenital pigmented naevus over most of the trunk surface area, along with multiple satellite lesions, especially over the legs. Magnetic resonance imaging of the abdomen showed large deposits of melanin in the glutei bilaterally, the rectus abdominis muscles and the liver. Treatment consisted of repeated dermabrasion of the naevus over the lower back with CO2 laser (Silk Touch), followed by autologous skin grafting. No evidence of malignant transformation was observed. CONCLUSION: Giant congenital melanocytic naevus may be associated with involvement of internal organs other than the central nervous system.

Humans↗
PubMed2004

A simple and rapid genotyping method for beta-2 receptor (beta2 AR) gene using allele specific multiplex PCR.

BACKGROUND: Polymorphism of the beta2-adrenergic receptor (beta2 AR) gene is an important determinant of the function of this receptor. It affects receptor down-regulation and beta2-agonist responses. It has also been a focus of interest in attempts to elucidate the genetic basis of asthma, hypertension, obesity and cystic fibrosis. Several different techniques have been established to determine beta2 AR genotypes but none of these methods are simple enough to detect simultaneously all the five alleles of our research interest (Arg16/Gly16, -20T/C, Gln27/Glu27, -47T/C and Thr164/Ile164). OBJECTIVES: To develop a simple and rapid PCR based method for the simultaneous detection of five beta2 AR alleles. METHOD: DNA was extracted from whole blood using standard alkali lysis method. Primers specific at the 3' end for the polymorphic sites were designed. The nested allele specific PCR was optimized for reproducibility and specificity. Parameters investigated included concentrations of MgCl2, Taq polymerase, primers and annealing temperature, to produce specific bands of interest. DNA samples were selected at random and submitted for direct PCR sequencing. RESULT: The first PCR produced a fragment of size 710 bp, which was used as template for the subsequent duplex and triplex PCR to detect the mutation sites of the five alleles. The method was found reproducible and specific when used to genotype patients with bronchial asthma. The sequencing results confirmed the specificity of the PCR method. CONCLUSION: The simple and rapid method for the simultaneous detection of the five beta2 AR alleles is suitable for the study of beta2 polymorphism and its clinical consequences.

Alleles↗
PubMed2003

Genetic polymorphism of CYP2D6 in Chinese subjects in Malaysia.

BACKGROUND: Although Malaysian Chinese share an origin with the mainland Chinese, their evolution has been influenced by intermarriages. With a gene such as CYP2D6, which is highly polymorphic, it is expected that the Malaysian Chinese would exhibit a polymorphism profile different from those of the Chinese populations in other geographical locations. OBJECTIVE: To study the genotype distribution of CYP2D6 among the Chinese people in Malaysia. METHOD: We obtained DNA from 236 Chinese individuals in Malaysia and used PCR-based methods to identify any common CYP2D6 alleles. RESULTS: A total of 236 subjects were enrolled and were successfully genotyped. Malaysian Chinese were relatively heterogeneous in terms of their CYP2D6 genotypes with nine genotypes recorded. CYP2D6*4, *5, *9, *10 and *17 were detected with the most common genotype being *1/*10. No subject had genotypes that predicted poor metabolic activity. However, 40% showed genotypes (e.g. CYP2D6*10/*10, *17, *4 and *9 and *9/*9) that predicted an intermediate metabolizer phenotype. Another subject carried the defective CYP2D6*17 allele and six carried the defective CYP2D6*9 allele. Both these alleles have not been reported in other earlier Chinese studies. CONCLUSION: This study revealed that, in terms of CYP2D6 polymorphism, Malaysian Chinese were a heterogeneous group of people. Although sharing some similarities with other Orientals, they also seemed to have some notable differences. The alleles CYP2D6*4, *5, *9, *10 and *17 were all detected. CYP2D6*3 was however absent.

Adolescent↗
PubMed2003

Lactic dehydrogenase isoenzyme in cerebrospinal fluid of children with febrile convulsions.

AIM: To study the lactic dehydrogenase isoenzyme values in children with simple and complex febrile convulsions. METHODS: Cerebrospinal fluid samples were collected from 115 children, 57 with simple febrile convulsions, 27 with complex febrile convulsions and 31 with no neurological or intracranial pathology (controls). Lactic dehydrogenase activity and isoenzyme levels were measured on a Hitachi analyser. RESULTS: Mean total lactic dehydrogenase activity was similar in the three groups. In the control group, lactic dehydrogenase-1 was the main fraction, followed by lactic dehydrogenase-2 and lactic dehydrogenase-3; only small percentages of lactic dehydrogenase-4 and lactic dehydrogenase-5 were detected. In the febrile convulsion group, the lactic dehydrogenase-1 fraction percentage was lower and lactic dehydrogenase-2, lactic dehydrogenase-3 percentages were higher than those in the control group; and the differences were statistically significant between the control and study groups (p < 0.01). Values of lactic dehydrogenase-4 and lactic dehydrogenase-5 were similar in all three groups. CONCLUSION: This is the first report on the lactic dehydrogenase isoenzyme pattern in the cerebrospinal fluid of patients with simple and complex febrile convulsions. The important finding that focal and general febrile convulsions are not associated with cell damage and changes in aerobic and anaerobic metabolism as lactic dehydrogenase remained unchanged. Analysis of cerebrospinal fluid lactic dehydrogenase isoenzyme levels can assist clinicians in differentiating febrile convulsions from clinical situations that might mimic them.

Child↗
PubMed2003

Bacterial susceptibility to oral antibiotics in community acquired urinary tract infection.

BACKGROUND: The most common oral antibiotics used in the treatment of urinary tract infection (UTI) are sulphonamides and cephalosporins, but emerging resistance is not unusual. AIMS: To assess the change in susceptibility of urinary pathogens to oral antibiotics during the past decade in children with community acquired UTI. METHODS: The study sample included two groups of children with a first community acquired UTI: 142 children enrolled in 1991 and 124 enrolled in 1999. UTI was diagnosed by properly collected urine specimen (suprapubic aspiration, transurethral catheterisation, or midstream specimen in circumcised males) in symptomatic patients. Antimicrobial susceptibility of the isolates was compared between the two groups. RESULTS: The pathogens recovered in the two groups were similar: in 1991--E coli 86%, Klebsiella 6%, others 8%; in 1999--E coli 82%, Klebsiella 13%, and others 5%. A slight but generalised decrease in bacterial susceptibility to common antibiotics in the two groups was shown: ampicillin 35% versus 30%; cephalexin 82% versus 63% (p < 0.001); nitrofurantoin 93% versus 92%. The only exception was co-trimoxazole, 60% versus 69%. Overall resistance to antibiotics in 1999 was as follows: ampicillin 70%, cephalexin 37%, co-trimoxazole 31%, amoxicillin-clavulanate 24%, nitrofurantoin 8%, cefuroxime-axetil 5%, nalidixic acid 3%. CONCLUSIONS: This study shows a slight but generalised decrease in bacterial susceptibility to common oral antibiotics in the past decade in our population. Empirical initial treatment with co-trimoxazole or cephalexin is inadequate in approximately one third of UTI cases. A larger number of pathogens may be empirically treated with amoxicillin-clavulanate (24% resistance); 95% of organisms are susceptible to cefuroxime-axetil.

Administration, Oral↗
PubMed2003

[Sepsis, disseminated intravascular coagulation (DIC) and hematological aspects as an unusual manifestation of congenital syphilis].

Congenital syphilis is a systemic infectious disease affecting and damaging many organs. It can be treated simply and effectively by penicillin. Our patient presented with sepsis and DIC, which is a rare manifestation, and to our knowledge this is the first reported case at the age of six weeks. We also review the symptoms of the disease focusing on the hematological manifestations of early congenital syphilis, diagnosis and treatment.

Disseminated Intravascular Coagulation↗
PubMed2002

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.

BACKGROUND: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric, spongy degeneration of the caudate nucleus, putamen, and globus pallidus. The familial form of IBSN is rare, and inheritance is either autosomal recessive or maternal. METHOD: The authors describe an Israeli Bedouin kindred in which 15 children born to consanguineous parents were affected with familial IBSN. They evaluated the clinical and radiologic evolution of the disease in 11 patients and the cerebral pathologic findings in one patient. Three of the children were treated with oral biotin 100 mg/day. RESULTS: Inheritance was apparently autosomal recessive. The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy. Postmortem study in one patient showed severe atrophy of the lenticular nuclei with gliosis and loss of neurons. Biotin, 100 mg/day, administered to the proband over a period of 15 months, may have slowed progression. In two other children treatment was initiated earlier and appeared to arrest or improve disease. CONCLUSIONS: Familial infantile bilateral striatal necrosis was inherited as an autosomal recessive trait. Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. Oral biotin may have benefited three children.

Basal Ganglia Diseases↗
PubMed2002

Herpetic whitlow infection in a general pediatrician--an occupational hazard.

Herpetic whitlow is a well-known occupational hazard for medical staff. It has been reported to affect mainly workers in intensive care units who come into close contact with oral secretions. We report herpetic whitlow infection in a general pediatrician in order to increase the awareness to this infectious occupational hazard that might occur in any health care worker who deals with oral secretions. A 35-year-old male general pediatrician sustained a minor knife cut in his finger and 5 days later he developed herpetic whitlow. He was treated with acyclovir with gradual improvement. We review the clinical course, complications and treatment of herpetic whitlow. The source of the infection in the present case was unknown, but it probably derived from oral secretions of children with unrecognized infection. Simple measures like wearing gloves during oral examination will avoid unnecessary morbidity in medical staff.

Adult↗
PubMed2002

Clinical dysentery in hospitalized children.

BACKGROUND: Clinical dysentery is a severe presentation of an enteric infection. The aim of the study was to evaluate the impact of a serious bacterial etiology in clinical dysentery in hospitalized children and determine if children at high risk can be identified on the basis of clinical or laboratory parameters. PATIENTS AND METHODS: A prospective study design was used. The study population included 60 children admitted to our department with clinical dysentery over a 16-month period. Fresh stool specimens were collected on days 1, 2 and 3. The clinical and laboratory data of the children were analyzed. RESULTS: Clinical dysentery accounted for 1.7% of all pediatric hospitalizations during this period. Stool cultures were positive for Shigella spp. in 18 children (30%), and Salmonella spp. in 15 children (25%), Campylobacter jejuni was identified in one patient (2%). There were no significant differences in clinical characteristics or laboratory parameters between children with positive and negative stool cultures. CONCLUSION: 40% of the children hospitalized for clinical dysentery were eligible for antibiotic treatment. Early administration of empiric antibiotic treatment is justified in children hospitalized for clinical dysentery in Israel. Clinical or laboratory parameters were unable to differentiate those with clinical dysentery at risk of serous bacterial pathogens in stool.

Age Distribution↗
PubMed2002

Presence of the d8/17 B-cell marker in children with rheumatic fever in Israel.

A genetic predisoposition to rheumatic fever (RF) has been suspected by several researchers. Ten years ago, using monoclonal antibodies, the B-cell alloantigen D8/17 was identified in 90-100% of patients with RF. The aim of the present study was to evaluate whether the marker is found in patients with RF in Israel, where the population is made up of diverse ethnic groups. The Schneider Children's Medical Center in Petah Tikva, Israel, was the setting for this study. The population included 22 children with RF and nine ethnically matched, disease-free individuals who served as controls. Each of the patients and controls were tested for the B-cell antigen with flow cytometry assay by using monoclonal antibodies. The main outcome measure was the difference in the presence of the D8/17 B-cell marker between the patients with RF and the controls. The mean percentage of B-cells expressing the marker was 11.5 +/- 2.9 in the patients and 4.24 +/- 2.7 in the controls (P < 0.001). There was no statistically significant difference in the frequency of the marker by ethnic origin. The present results support earlier studies suggesting that D8/17 is a disease-specific marker with a world-wide distribution which may potentially serve as an additional diagnostic tool in patients with suspected RF.

Adolescent↗
PubMed2002

Adolescent screening for orthopedic problems in high school.

BACKGROUND: The effectiveness of orthopedic screening programs for school-age children are still controversial. We conducted a prospective study in order to determine the frequency of undiagnosed orthopedic problems in an adolescent population. OBJECTIVE: To determine the frequency of undiagnosed orthopedic problems in an adolescent population discovered through routine physical examinations carried out by a general pediatrician in a school clinic. METHODS: We examined 2380 adolescents attending a public high school over a 5 y period in order to determine the frequency of undiagnosed orthopedic abnormalities in this age group. RESULTS: Previously undiagnosed orthopedic findings, especially spinal deformities were found in 14.8%. Scoliosis was detected in 1.6% of the entire group with a threefold predominance of girls over boys. Few cases were progressive and needed surgery. Extra spinal orthopedic findings were found in 2.9% of the patients. CONCLUSIONS: Screening programs can identify previously undetected orthopedic abnormalities in the school-age population. We conclude that screening programs for school age children coupled with subsequent follow-up procedures are worthwhile.

Adolescent↗
PubMed2002

Lactic dehydrogenase isoenzymes in cerebrospinal fluid of children with Guillain-Barré syndrome.

BACKGROUND: Increased levels of lactic dehydrogenase (LDH) in the cerebrospinal fluid (CSF) have been reported in association with several intracranial pathologies. No studies have been performed on patients with Guillain-Barré syndrome (GBS). AIMS: To study LDH isoenzymes in CSF of children with GBS. METHODS: CSF samples collected from nine patients with GBS were analysed for total LDH isoenzymes activity, and compared to samples from 15 patients with normal results. RESULTS: Mean total LDH activity was 33.33 (6.63) U/l. All patients had significantly increased LDH-3 isoenzyme compared to controls. LDH-3 was the predominant fraction, accounting for more than 50% of total LDH activity and present in more than twice the percentage of LDH-1 or LDH-2. By contrast, in the control group, there were high percentages of mainly LDH-1 and LDH-2. CONCLUSIONS: GBS is apparently associated with a distinct LDH isoenzyme pattern in the CSF. More studies are needed to confirm the rise in LDH-3, as serial CSF analyses are unavailable, and to determine the optimum time of analysis when this finding first becomes detectable.

Child↗
PubMed2001

Skin indurations in response to tuberculin testing in patients with nontuberculous mycobacterial lymphadenitis.

Mantoux results were examined for 29 children with culture-proven nontuberculous mycobacterial lymphadenitis, and 4 species were isolated: Mycobacterium avium-intracellulare complex (from 14 patients [48%]), Mycobacterium haemophilum (from 12 [41%]), Mycobacterium simiae (from 2 [7%]), and Mycobacterium scrofulaceum (from 1 [3%]); the median indurations for each species were 15.5 mm, 14.5 mm, 20 mm, and 23 mm, respectively, and in 17 cases (59%), they were > or =15 mm. In regions with a low incidence of tuberculosis, lymphadenitis thought to be due to nontuberculous mycobacteria should be managed as such, regardless of Mantoux results, thereby avoiding antituberculosis treatment.

Adolescent↗
PubMed2001

Long-Term outcome of neonatal Citrobacter koseri (diversus) meningitis treated with imipenem/meropenem and surgical drainage.

Neonatal Citrobacter koseri (diversus) meningitis is often complicated by the formation of brain abscesses and has a poor neurological outcome with seizures, mental retardation and paresis as sequelae in 50% of the cases. As there is emerging resistance to ampicillin, gentamicin and third-generation cephalosporins, we attempted to treat this infection with carbapenems. Carbapenems in combination with cefotaxime and surgical drainage may play an important role in treating C. koseri meningitis.

Carbapenems↗
PubMed2001

Pro- and anti-inflammatory cytokines in children with febrile convulsions.

The production of interleukin (IL)-1 beta, IL-6, tumor necrosis factor (TNF)-alpha, and IL-10 by peripheral blood mononuclear cells was examined in 13 children with and 11 children without any history of febrile convulsions. The results revealed an increase in all types of cytokine production by lipopolysaccharide-stimulated mononuclear cells from individuals of both groups. However, the secretion of IL-6 and IL-10 in response to lipopolysaccharide was higher in those with a previous history of convulsions. Because IL-1 beta production precedes that of IL-10, a cytokine known to suppress IL-1 beta generation, it is possible that its secretion was inhibited partially by the significantly higher amount of IL-10 found after 24 hours of incubation. If this were the case, these findings may explain the comparable levels of IL-1 beta produced by peripheral blood mononuclear cells from children of both groups. The higher level of IL-1 beta produced by mononuclear cells from children with history of convulsion after 5 hours of incubation with lipopolysaccharide supports this assumption.

Child, Preschool↗
PubMed2001

Treatment of morbid obesity in inner-city women.

OBJECTIVE: To explore the use of the very-low-calorie formula diet (VLCD) in the indigent population of Newark, NJ, with the goal of achieving 10% weight loss within a relatively short period of 10 weeks. RESEARCH METHODS AND PROCEDURES: We accepted 131 morbidly obese indigent women into our study program. The study was limited to women only and the average starting weight was 292.3 +/- 5.9 lbs (+/- SE; 50.3 +/- 0.9 body mass index [kg/m(2)]). We used three treatment paradigms: total cost-free program for 10 weeks; cost-free, but compliance requirements; and a weekly charge of $25. The results obtained were compared with two control populations: women enrolled during the same recruitment period in a comparable suburban VLCD program and a historical control population of suburban women treated from 1985 through 1995. RESULTS: In group A (total cost-free), 79% of patients completed the 10-week program, but only 18% of patients achieved the goal of 10% weight loss. In group B when attendance and weight loss requirements were imposed, the dropout rate accelerated such that only 37% of patients completed the 10-week course, and 16% of the women were successful with their weight loss. In group C, imposing $25/wk financial outlay also accelerated dropouts but had little effect on weight loss success, which was 10% of the starting group. By comparison, the suburban patients and the historical control group exhibited 67% and 76% attendance rates after 10 weeks, and 33% and 55% success rates, respectively, in achieving the weight loss goal. DISCUSSION: We conclude that inner-city patients exhibit great interest in weight loss when financial barriers are removed. Successful weight loss was achieved in 10% to 18% of patients using the VLCD approach, approximately one-half of that obtained in affluent suburban women. Imposing financial or compliance restrictions to the inner-city patients served only to enhance dropouts.

Adult↗