Mayer-Rokitansky-Kuster-Hauser syndrome is a congenital malformation characterized by failure of the mullerian duct to develop, resulting in missing of the uterus and upper part of the vagina in women showing normal development of secondary sexual characteristics and a 46, XX karyotype. It is the second most common cause of primary amenorrhea after Turner’s syndrome. A 30 year old nulliparous lady who has been married for 13years presented with history of primary amenorrhoea. Examination revealed a young lady, with normal female pubic and axillary hair distribution, and breast was at tanner stage 4. Pelvic examination showed a normal sized clitoris, labia majora and minora, normal urethra, and blind ended vagina extending to about 7cm. Abdomino-pelvic USS revealed both kidneys normal in position and size, hypoplastic uterus measuring 1.05cm in antero-posterior diameter, left adnexium and pouch of Douglas were normal. Buccal and peripheral blood smear show Barr bodies and drumstick appendages suggested karyotype is XX. She subsequently had diagnostic laparoscopy which revealed a streak of thickened ligament at the position of the uterus. Both ovaries and their ligaments were visualised with a follicular cyst on the right ovary. We made a diagnosis of mullerian agenesis. The couple were counselled and the poor prognosis for fertility explained since they did not seem to have significant problem with intercourse. Gestational surrogacy is a viable treatment option for patients with Rokitansky syndrome and was offered to this patient, but couldn’t afford it due to the prohibitive cost of the procedure.
Objective: To evaluate the anamnestic prevalence of hypertension and the number of subjects with high blood pressure independently by clinical history; quantify how many subjects are in our population with masked hypertension. Design: Descriptive observational study with simple random sampling of residents in Santarcangelo di Romagna. Setting and Participants: From February 2011 to February 2013 we carried out the prospective evaluation of 127 participants: 59 females and 68 males, whose average age was 64 years (range 51 - 80). We performed office blood pressure, ambulatory blood pressure monitoring (ABPM) and recorded clinical history. Results and Conclusion: Our population was made of 62 cases with anamnesis of high blood pressure (the anti-hypertensive treatment works only in 79% cases) and of 65 persons without anamnestic hypertension. In this sub-population in 9 cases the office measurement performed before ABPM was normal, but ABPM found high values of blood pressure night time, and an increased average value, condition compatible with a MH diagnosis. The implications are that there is a substantial number of people in the general population who has untreated hypertension and an increased risk of cardiovascular disease that requires serious consideration. The results obtained in this work, in our opinion, suggest a more intensive use of ABPM in the management of patients with high blood pressure or without hypertension but with organ damage difficult to explain, particularly in diabetics and smokers.
Aims: Describe the multimodality imaging of a large facial AVM in a child and discuss the treatment options of pediatric facial AVMs Case Presentation: An 11 year old girl developed spontaneous (no prior trauma) enlargement of her left cheek with bleeding from her mouth when eating hard foods. The bleeding was described as pulsatile red bleeding that stopped spontaneously. On physical exam, she had a palpable pulsatile left buccal AVM; auscultation revealing high-flow through it. MRI demonstrated a 2.7 cm heterogeneous vascular mass arising in the soft tissues of the left cheek with involvement of the anterior wall of the left maxillary sinus with a large tortuous ectatic draining vein. CTA demonstrated a large AVM involving the left face with the nidus along the posterior wall of the left maxillary sinus, markedly enlarged draining veins throughout the left face/cheek and prominence of the pterygoid venous plexus. Left common carotid artery angiogram demonstrated an extensive AVM centered in the left maxilla. Left external carotid artery angiogram demonstrates the AVM receiving supply from the distal left internal maxillary, left facial, and left internal maxillary arteries. Angiography of the left internal maxillary demonstrated a high flow AVM with drainage to the left facial vein. The left internal maxillary artery was embolized using Onyx. The left facial, transverse facial, and internal maxillary arteries were embolized with PVA particles. Following embolization, blood supply to the AVM was substantially reduced. At surgery, the AVM was resected. Discussion and Conclusion: Head and neck AVMs have a high morbidity as they tend to be clinically silent until manipulation/trauma results in bleeding. Those that bleed have a high incidence of rebleed. Embolization is utilized pre-operatively to decrease bleeding but not as the primary treatment due to potential for developing collaterals. Treatment remains controversial due to the rarity of the lesion, but typically involves a multidisciplinary approach as in our case.
This work presents the molecular genetics investigation of a male neonate referred to our genetics laboratory with the diagnosis of classical lamellar ichthyosis (one form of autosomal recessive congenital ichthyosis). The neonate was born as a "collodion-baby" and he is the product of a maternal first cousin marriage. DNA sequencing of the coding exons of transglutiminase-1 (TGM1) gene revealed a novel missense (c.A1621C) mutation in exon 11. The mutation altered codon 541 from ACC into CCC thus changing the amino acid threonine into proline (p.T541P) and was predicted to be pathogenic. The presence of the mutation in both parents in heterozygous form and in the patient in homozygous form was further confirmed by PCR-restriction fragment length polymorphism (PCR-RFLP) designed specifically for the identified mutation. It is concluded that the T541P mutation is the cause of the congenital ichthyosis in the presented case and the parents were advised to undergo a PGD-IVF for embryo selection prior to their next pregnancy.
Background: The first attempted hemicorporectomy, also known as translumbar amputation (TLA), was reported in 1960. The first TLA with survival was performed in 1961. It is a lifesaving procedure initially designed for carefully selected patients with otherwise terminal cancer. The most common indications now are benign conditions such as chronic osteomyelitis of the pelvis in paraplegic patients. It is also the only procedure in which the spine is electively divided. We report our experience with four patients who had this operation, all done in two stages. Methods: We reviewed the current literature and report techniques used in our series. Results: We found 20 references via computer search; 14 described technical features. We describe our current technique in this report. Conclusion: TLA can be carried out with good results. Our technique minimizes blood loss, decreases operative time, and preserves one vertebral body, compared to other techniques. Summary: Hemicorporectomy is rarely performed. We discuss the history and rationale of the operation and describe what we consider the optimal technique, based on our series of four, with a minimal complication rate and zero mortality.
Aim: To study the experience of Greek pediatricians with parents who refuse their children's vaccination and their attitudes towards vaccinations. Study Design: Nation-wide questionnaire-based survey conducted from February through May 2013. Methodology: We included 211 pediatricians. Results: A total of 190 (90%) pediatricians reported that they had encountered at least one case of parental vaccination refusal in the past. During 2012, the pediatricians faced a mean of 10.5 cases of vaccination refusals / 1000 vaccinations. The human papilloma virus (HPV) vaccine was the most frequently refused vaccine, followed by the measles-mumps-rubella (MMR) vaccine. "Fear of adverse effects" was the most frequent reason of vaccination refusal (83.8%) followed by "Use of alternative medicine" (46.4%) and "Anti-vaccination belief against all vaccines" (45.3%). Internet was the most frequent source of information for parents who refused vaccination. Of 201 pediatricians, 135 (67.2%) stated that "Childhood vaccinations should be mandatory for primary-school entry", while 28 (13.9%) stated that "Parents have the right to refuse their children's vaccinations". Lastly, 130 (61.6%) pediatricians stated that they had concerns about vaccines, mainly about their costs (46.2%). Conclusion: Refusal of vaccinations by parents is not frequent in Greece and concerns mainly the HPV and the MMR vaccines. Pediatricians should improve their ability to deal with this issue.
Objectives: To determine the level of awareness of ovarian cancer symptoms and help-seeking responses of female health workers. Methods: Four hundred and fifty seven female health workers were randomly selected and made to complete a structured proforma adapted from the Ovarian Cancer Awareness Measure (Ovarian CAM), which is a site-specific version of the generic Cancer Awareness Measure. Questions were asked on level of awareness of ovarian cancer early symptoms, anticipated time and the barriers to help-seeking responses. Results: Out of 457 clients, 211 (46.2%) were able to recall at least one warning symptom of ovarian cancer while 20 (4.4%) were able to recall more than 3 warning symptoms. On the other end, when presented with a list of warning symptoms of ovarian cancer, identification ranged from 33.7-72.0% for the symptoms. As high as 28.0% could not identify any of the listed warning symptoms though some of them are also well known symptoms of late stage of ovarian cancer as well. A range of 11.7 – 27.3% of those who have ever seen a cancer patient before will seek for immediate medical help for various ovarian cancer symptoms. Also, having experienced a form of cancer before showed no relationship with the identification of all the warning signs of ovarian cancer outlined (P value ranged from .15 to .93). Conclusion: The level of awareness of ovarian cancer warning symptomsis very low among the female health workers, and there is a poor medical help seeking habit even among those that could identify those symptoms. Efforts at improving these factors are therefore recommended.
Aim: Infections with Hepatitis B virus (HBV) and Hepatitis C virus (HCV) cause serious morbidity and mortality. This study was designed to determine the prevalence of Hepatitis B and C infections and their co-infections among blood donors in Minia governorate, Egypt. Study Design: A cross-sectional study. Place and Duration of Study: The study was conducted over a period of 6 months starting from May 2011 till December 2011 and it included 5410 samples from blood donors at the Regional Blood Transfusion Center in Minia governorate. Methodology: Both HBsAg and antibodies to HCV were detected by EIA in 5410 blood samples from potentially healthy asymptomatic blood donors. Detection of HBV DNA and HCV RNA was carried out by real-time PCR (RT-PCR). Results: Most individuals were males (4305; 79.6%) and were from rural areas (3695; 68.3%). The sero-prevalence of infections was 0.9% (48 cases) for HBV and 6% (322 cases) for HCV, and 0.1% (7 cases) for co-infection. Out of 7 samples with co-infection, only one (14.3%) was positive for HBV DNA and HCV RNA. The mean age of HCV-antibody positive donors (33.2 ±9.41 years) was significantly higher than that of the HBV-positive donors (27.3± 6.06 years) and co-infection (29.9± 10.21 years) (P<0.05). Prevalence of HBV and HCV was higher in males (1% and 6.6% respectively) while HCV was higher in rural areas (6.8%) unlike HBV which did not show any difference in residential distribution (0.9% for both rural and urban areas). Conclusion: The prevalence of both viruses is low and that of the dual infection is lower than any of the two viruses alone.
Aim: To determine the incidence, predisposing factors, clinical presentation and perinatal and maternal outcome of patients managed for abruptio placenta. Study Design: A retrospective review. Place and Duration of Study: Department of Obstetrics and Gynaecology, Niger Delta University Teaching Hospital, Okolobiri between January 2009 and December 2013. Materials and Methods: Data were collected from records of all patients presenting with abruptio placenta. Information extracted from the records included demographics, parity, gestational age, clinical presentation, risk factors for abruptio placenta, complications, and perinatal and maternal outcome. Data analysis was performed with Epi info version 6.04d. The results are presented as means with standard deviations, percentages, rates and proportions. Association between maternal age and selected obstetric and neonatal variables were assessed using the chi-square and the two-tailed Fisher exact test. Results: A total of 40 cases of abruptio placenta were seen out of 2,736 deliveries giving an incidence of 1.46%. Age did not significantly affect the incidence of abruptio placenta in this study (p=0.13). High parity was significantly associated with abruptio placenta (p = 0.02). Unbooked status and Low socio-economic class were both significantly associated with abruptio placenta (p<0.001). Possible abdominal trauma due to traditional abdominal massage was documented in 26 (72.2%) cases and was significantly associated with abruptio placenta (p<0.01). There was one maternal death giving a case fatality rate of 2.8%. There were 19 perinatal deaths giving a perinatal mortality rate of 527.7 per 1000 births. Conclusion: Lack of antenatal care and traditional abdominal massage during pregnancy are major predisposing factors to abruptio placenta in our environment. Perinatal mortality associated with abruption placenta is high.
Aims: To study the effect of various doses of tetracycline (TC), oxytetracycline (OTC) and chlortetracycline (CTC) on the enzymatic (DHA, acid phosphatase, alkaline phosphatase, urease and catalase) activity in sewage amended and un-amended alluvial soil. Methodology: A laboratory incubation study was conducted during 2012-2013 on an Aligarh farm alluvial soil. The enzymatic activity was studied in presence of various doses of three tetracycline antibiotics in soil; soil amended with sewage sludge; and mixture of sewage sludge and tetracyclines at different time intervals [(0 (4h), 7, 14, 21, 35, 56, 70,91d]. Results: Activity of all the studied enzymes was significantly inhibited for up to 14-21 days of incubation (14 d for DHA and acid phosphatase, 21 d for alkaline phosphatase, urease and catalase) and thereafter inhibition got weaker. The activity of all the studied enzymes decreased with increase in the doses of tetracyclines. Higher enzymatic activity was observed in sewage sludge amended soil than in the un-amended soil. Tetracyclines in presence of sewage sludge were found to have no appreciable effect on enzymatic activities. Conclusions: Dehydrogenase, acid and alkaline phosphatase, urease and catalase activity in tetracycline free soil was superior to soil containing antibiotics in the period of 2-3 weeks of incubation. The inhibition of soil enzyme activity was directly proportional to tetracycline concentration. In presence of sewage sludge, the studied enzymes activity initially increased up to 3 weeks and decreased thereafter. In presence of sewage sludge and antibiotics, the activity of enzymes remains almost unchanged. The activity of studied enzymes in soil was positively correlated to soil organic content.
Aims: Curcumin is a popular spice and part of the ancient medicinal system Ayurveda. It is known to have anti-inflammatory, antimicrobial and antioxidant properties; research has shown curcumin to have beneficial effects on induced liver damage in animals. Study Design: Based on our own observations demonstrating hepatic improvement with curcumin in both obese and wild-type animal models, as well as the work of others, we determined that an n of at least 6 in each group at the selected time point would allow for greater than 80% probability of finding significant differences at a level of P< 0.05 between curcumin treated versus control fed OB-OB mice in the proposed experiment. Realizing that histomorphometric data are more variable and to ensure statistically valid data, the n per group was raised to 10, which allowed us to significantly detect a 10% difference between groups using a power analysis program and statistical evaluation of the data (Statistica, Statsoft). Place and Duration of Study: With a protocol approved by the University Animal Care Committee, we tested the hypothesis that the natural fatty livers in leptin k/o mice (OB/OB) would be improved by adding curcumin to food pellets at doses equal to human use (mg/ kg body weight). Methodology: Ten curcumin-treated and ten untreated control OB/OB mice were fed 2 months then studied for effects. Food pellets (Harlan-Teklad) were prepared with and without 180 mg curcumin in the daily dietary intake (9 gm). Calories for both diets: protein 15.2%, carbs 62.5%, fat 22.3%. Results: Histopathology on organs and cytokine analysis on serum parameters were measured on the two groups. Blood glucose was elevated in 8/10 curcumin-treated mice (p=0.07 a trend). Cytokines adiponectin and TNFα were strongly decreased by the curcumin diet and tissue superoxide was reduced. Liver % fat was significantly reduced by the curcumin additive, P=.01. Conclusion: Dietary curcumin in OB/OB mice produces significant improvement in liver health by reduction of % hepatic fat as well as by improved cytokine and inflammatory values. An increase in blood glucose by this treatment remains unexplained.
Aim: This study is mainly aimed at investigating the study the toxic effects of raw and cooked Tetracarpidium conophorum nut taken as snacks in Nigeria. Study Design: Both biochemical and histopathological effects the raw (RTC) and cooked (CTC) Tetracarpidium conophorum of different diet formulation were carried out following 30 days period of oral feeding.
Methodology: Rats were divided into six groups of five rats each. Each feed and walnut was weighed and mixed in the ratio of 1:1 before administration. Group A: Normal animal feed, Group B: Mixture of animal feed and cooked nut (ratio of 1:1). Group C: Mixture of animal feed and the raw nut (ratio of 1:1), Group D: 100% of the cooked nut, Group E: 100% of the raw nut while Group F: Mixture of raw nut and cooked (ratio of 1:1).
Results: Result showed that the aspartate amino transferase activity of group E and F (100% RTC and 50% RTC+50%CTC) respectively were significantly higher (P<0.05) than that of the control group (Group A). Alanine amino transferase activity of group B, E and F (50% feed + 50% CTC, 100% RTC and 50% CTC + 50% RTC respectively) were significantly higher (p<0.05) than that of the group A (normal group). The ALP levels of group D (100% CTC) recorded a significant increase (p<0.05) when compared with that of the control. The urea concentration of group F was significantly higher (p<0.05) than that of the control group while there was no significant difference (p>0.05) between the creatinine concentration of that of test groups and the control. Histopathological results showed mild to severe changes in the liver of all the test groups. However, no such changes were observed in the kidney of the test groups. Conclusion: The results seem to suggest evidence of toxicity especially for RTC, indicating that cooking of the nut might have reduced the level of toxicity.
Objectives: To develop separate and joint statistical models in the Bayesian framework for longitudinal measurements and time to death event data of HIV/AIDS patients. Study design: Longitudinal study. Place and Duration of Study: The population of study includes all HIV/AIDS patients who had been under follow up of Antiretroviral Therapy (ART) from January 2006 to December 2012 at Shashemene Referral Hospital in Ethiopia. Methodology: The posterior model was analyzed using Gibbs sampler by sampling from the distributions of the parameters given the data. Convergence of each sample was maintained.
Results: The results indicated that the joint model was not significant indicating that the CD4 count did not have significant effect on the patient’s survival time. The results of both the separate and joint analyses were consistent. The separate model was better interims of goodness of fitness than the joint model, while the final joint model was found to be simpler (less complex) model than the separate models. In the longitudinal sub-model, the predictors: linear time, squared time, sex, and tobacco addiction were statistically significant at 0.05 level of significance. For the survival submodel, knowledge of ART and condom use were significantly related with time to death. Conclusion: The Bayesian Joint model provides results consistent with that of the separate models.
Background and Aims: Tuberculosis (TB) is a global public health problem and one of the leading causes of death. Worldwide, 31% of all estimated new TB cases are from Africa. Zimbabwe is one of the 22 high TB burden countries. Multi-drug resistant TB (MDR-TB) poses challenges in TB control, hence the need for rapid laboratory diagnosis of MDR-TB for optimal treatment and reducing spread. The study aim was to investigate genetic mutations associated with MDR-TB isolates from various Harare clinics using the GeneXpert MTB/RIF® by Cepheid and Genotype MTBDRplus, to improve the diagnosis and management of MDR-TB. Methods: Samples from adults aged 16 years and older, recruited from several polyclinics in the southern suburbs of Harare were used for our study. All laboratory tests prior to this study had been carried out at Biomedical research and training institute’s level three bio-safety TB laboratory from January 2008-August 2012. Ethical approval was sought from BRTI Institutional review board. A total of 69 (37 MDR-TB and 32 non MDR-TB) archived isolates processed on Genotype MTBDRplus (Hains) and corresponding 39 sputum were processed on the GeneXpert. Mutations on rpoB, katG and inhA genes were observed. The gold standard was culture. Diagnostic accuracy of both methods and their level of agreement were calculated. Results: Of the 37/69 isolates screened by culture for MDR-TB, 88.4% were confirmed by MTBDR® plus line probe assay (Hains). Within the 39 isolates tested using the Xpert MTB/RIF (GeneXpert) assay 12 were true MDR-TB. Over 8 single nucleotide polymorphisms were observed on the three genes conferring Rifampicin and Isoniazide drug resistance. The Hains and GeneXpert had an almost perfect agreement with a kappa value of 0.82. Conclusion: Genetic markers can be used in the diagnosis of MDR-TB, to complement phenotypic methods such as culture. Using the commercial methods, Hains and GeneXpert, 88.4-94.2% of drug resistance maybe detected. Furthermore, we recommend sequencing so as to identify novel mutations and to design a kit that is custom made for the population.
Background: The aim of this study was a comparison of the ultrasonographic (US) and histopathological findings on patients with thyroid nodules (TNs) in a moderately iodine-deficient region. Methods: The US properties (The echostructure, the presence of halo sign, microcalcification, blurred border, vascularization, and the taller-than-wide sign) of 7,180 TNs were assessed in 3,907 patients later underwent surgery. Results: 411 malignant cases were found. The risk of malignancy was significantly higher in cases involving a hypoechogenic nodule, microcalcification, a blurred border, type 3 vascular pattern or the taller-than-wide sign. The presence of a halo sign was associated with a significantly lower risk of malignancy in cases with hypoechogenic TNs, but with a significantly higher risk in cases with moderately hypoechogenic TNs. As concerns hyperechogenic TNs, the presence of a halo sign had no influence on the risk of malignancy. Among the patients with microfollicular proliferation without atypia on cytology, the risk of malignancy was significantly lower in the absence than in the presence of a halo sign. Conclusions: The US features of a malignant TN are in general the same in our iodine-deficient region as in iodine-sufficient areas. The significance of a halo sign depends considerably on the echostructure of the TN. A combined assessment of the US and cytological findings may help avoid unnecessary surgery in patients with suspected follicular tumor.
