Amelogenesis imperfecta (AI) - a hereditary heterogenous disorder causing developmental alterations in the structure of enamel. The Al trait can be transmitted by either autosomal dominant, autosomal recessive, or X-linked modes of inheritance. Genes implicated in autosomal forms are genes encoding enamel matrix proteins, namely: Enamelin and Ameloblastin, Tuftelin, MMP-20 and Kallikrein – 4 . It is necessary to diagnose the case and provide durable functional and esthetic management of these patients, where the unaesthetic appearance has a definite negative psychological impact. We present here three case reports of AI that we diagnosed on the basis of clinical and radiographic features along with the complete review.
Background: Primary open-angle glaucoma is one of the commonest causes of blindness due to optic nerves damage because of elevated intraocular pressure and it is the commonest form of glaucoma. We determined the frequency of CYP1B1 gene mutations spectrum among families with open-angle glaucoma in Calabar.
Methods: Ophthalmologists examined the recruited subjects to establish the diagnosis on patients. Ninety-six (96) subjects were recruited, comprising 15 primary open-angle glaucoma patients, 11 primary childhood glaucoma patients, 17 parents and 53 healthy unrelated, aged-matched controls were selected from individuals attending the eye clinic. 2-3 ml of blood was collected from each participant, DNA extracted, PCRs and bidirectional sequencing performed on all subjects for CYP1B1 mutation on exon 3. The nucleotide sequences of the CYP1B1 gene were edited from chromatograms using the Bio edit software. Multiple sequence alignment and pairwise comparison of CYP1B1 gene was carried out on MEGA 6.06 software. GORIV software was used in determining the secondary structure for each individual with and without the CYP1B1 gene mutation. Phyre2 software was utilized for predicting the 3D tertiary structure for individuals. Statistical analyses were performed using SPSS version 20.0 software. Significant level was set at P<0.05.
Results: CYP1B1 gene were amplified and sequenced from all recruited participants for this study. The mean age of primary childhood glaucoma was 98.36±12.43 months and 56.44±7.1 years for POAG, while the mean age at disease presentation of 43.42±1.4 months and 52.33±7.4 years for primary childhood glaucoma and POAG, respectively. The mean intraocular pressure (IOP) in right/left eye was 24/23 mmHg and 32.1/31 mmHg for primary childhood glaucoma and POAG, respectively. All cases of glaucoma were bilateral. Two non-synonymous mutations (g.291G>C, g344C>T) and 3 synonymous mutations (g.1T>C, g.1T>G, g.46T>C) of CYP1B1 gene mutations spectrum were observed in primary childhood glaucoma, POAG and parents. The g.291G>C (p.Q97H) recorded the frequency of 36.4%, 33.3% and 29.4% for primary childhood glaucoma, POAG patients and parents respectively. Eight different nucleotides deletions including g.2-4delCTC, g.2delC, g.317delT, g.535delG, g.378-380delATG, and others were detected. The deletion g.370-380delATG frequency was 27.3%, 20.5%, and 41.2% for primary childhood glaucoma, POAG patients and parents respectively. The CYP1B1 gene mutations spectrums were not detected in all controls.
Conclusion: This research identified CYPIBI gene mutations spectrum, which were detected in primary childhood glaucoma, POAG cases and parents but not observed in controls. It suggests molecular genetics etiology of the disease in Calabar population, but further studies are required. This will forms baseline information for further molecular studies among glaucoma patients in Nigeria.
Aims: This study aims to comparatively investigate the effects of Cimetidine, Ascorbic acid (Vit C), Citrus aurantifolia and Tetracarpidium conophorium on male fertility hormones in adult male albino Wistar rats.
Study Design: 96 Albino rats randomly assigned into 6 groups (A – F), the first 4 groups (A – D) further sub-divided into 3 Subgroups of 6 rats each and the last 2 groups (E –F), sub-divided into 2 Subgroups of 6 rats each.
Place and Duration of Study: Department of Clinical pharmacology Animal house, University of Uyo, Nigeria.
Methodology: Group A – D had sub-groups1 as control groups, sub-group2 and 3 as experimental groups which received medium and high doses of Cimetidine, Vit C, Citrus aurantifolia and Tetracarpidium conophorium respectively, while Groups E – F also had Control sub-groups and experimental sub-groups treated with medium doses of Cimetidine and Vit C, Citrus aurantifolia and T. conophorium respectively. Treatment was performed daily for 21 days; serum reproductive hormonal assay was carried out.
Results: Vit C significantly (P<0.05) increased follicle stimulating hormone levels in Vit C high dose sub-group3 compared to control and Vit C low dose sub-group2, significantly (P<0.05) increased testosterone serum levels in Vit C low dose sub-group2 and Vit C high dose sub-group3 compared to control, also significantly (P<0.05) decreased Luteinizing hormone (LH) levels in Vit C low dose group compared to control. Combination treatment of Cimetidine and Vit C significantly (P<0.05) increased follicle stimulating hormone levels when compared to control, also significantly (P<0.05) decreased LH levels in sub-group2 compared to control. Combination treatment of Citrus aurantifolia and T. conophorium significantly (P<0.05) increased follicle stimulating hormone and testosterone levels when compared to control.
Conclusion: Vitamin C and T. conophorium can boost fertility. Citrus aurantifolia at high doses affects fertility negatively having a mild effect at medium doses.
Objective: To analyze cerebrospinal fluid (CSF) in acute bacterial and viral meningitis patients and differentiating between bacterial and viral meningitis upon the changes observed in CSF compositions.
Methodology: This was a hospital based study conducted from June 2016 to November 2017 in the infectious disease unit of Chattagram Maa-O-Shishu general hospital, Chittagong. The admitted patients who fulfilled the criteria were included in the study. The CSF analysis was done on the first spinal tap and it contained protein level, lactate level, glucose, cell count, Gram’s stain and culture. Blood count, blood glucose, blood culture were also investigated for all the patients.
Results: A total 93 patients were included in the study. Out of 35 bacterial meningitis patients, S. pneumoniae, N.meningitidis and E. coli were found in 51.43% whereas 48.57 were culture negative. Both CSF protein and lactate values were found higher in bacterial than in viral meningitis, with mean 298.33 ± 88.32 and 95.05 ± 49.42 mg/dl (p value <0.001) respectively and 8.35 ± 3.18 mmol/L and 3.4 ± 5.62 mmol/L (p value <0.001) respectively. Higher leukocyte count was also found in bacterial than in viral meningitis, 22.82 ± 6.71 and 10.43 ± 4.31 cell/culture (p value <0.001) respectively. However, lower CSF glucose level was found in bacterial than in viral patients, with mean 175.67 ± 49.87 and 132.26 ± 38.72 mg/dl (p value <0.001) respectively.
Conclusion: CSF analysis (CSF protein, lactate, glucose values), as well as blood glucose and leukocyte count, may provide a reliable, rapid way to differentiate between acute bacterial from viral meningitis which may come into the aid in disease management.
Aim: The study was aimed to identify etiology of bacteria associated with wound infections and antimicrobial susceptibility profile of the isolated organisms in the community.
Study Design and Methodology: It is a retrospective study; data was obtained from Medical Microbiology department register from May 2005 through October 2007 and was exempted from ethical approval. Swab samples were collected from 408 patients between age groups 0 through 75 years from out patients and inpatients admitted in the wards for various injuries such as burns, post surgical wound, fracture and ulcer wound. Samples were cultured within 1hour on macConkey agar, blood agar and chocolate agar, and incubated at 37°C for 18-24hours overnight. Data was coded and computed using SPSS 16.0 and p-value 0.05 was considered statistical significant.
Results: Out of 408 swab samples, 338 (82.8%) yielded positive culture, overall highest isolates was found within age groups 31-40 years with 69(94.5%) growth followed by 21-30 years 61(85.9%) and the least growth was found in 51-60years 27(77.1%) and 0-10years 88(77.2%), and statistically not significant (p-value 0.814, mean age =11.34, median =12.00, mode =12 and S.D±4.361). The highest single isolates was Staphylococcus aureus 122(42.5%) followed by Escherichia coli 108(37.6%), Pseudomonas aeruginosa 28(9.8%), Proteus species 15(5.2%) and lowest isolates were Candida albicans 3(1.0%), Clostridium species 2(0.7%), Coagulase negative Staphylococcus 2(0.7%) and Streptococcus species 2(0.7%).
Escherichia coli and Staphylococcus aureus had the most prevalent polymicrobial isolates with 28(54.9%) followed by Escherichia coli and Proteus species 8(15.7%).
Staphylococcus aureus the highest prevalent single isolates was susceptible to Ceftriazone 75(61.5%), Ciprofloxacin 71(58.2%), Ofloxacin 68(55.7%) and Clindamycin 83(68.0%).
Conclusion: The incidence rate of wound sepsis in the studied population is 338(82.88%) with incriminating single isolate of Staphylococcus aureus 122(42.5%). This is a serious burden to our patients which call for serious attention among stake holders.
Recommendation: Stake holders need to educate patients visiting hospital community on the danger of wound sepsis, and first aid treatment before visiting tertiary health care to reduce morbidity and mortality incidence rate.