A retrospective analysis of mid trimester termination of pregnancies for fetal congenital malformations at tertiary care hospital

Background: This study was conducted to analyse the spectrum of fetal anomalies as a cause of pregnancy termination in a tertiary care hospital.Methods: This retrospective study includes antenatal women with fetal anomalies diagnosed by an ultrasound (USG) and admitted in Chettinad Hospital and Research Institute, Kelambakkam from January 2018 to January 2020 for termination of pregnancy. Data was collected from hospital records and analysed.Results: Gestational age of women with fetal congenital anomalies ranged from 13 to 21 weeks. Pregnancy termination, was performed between 17-19 weeks of gestation in 41% of patients, between 13-15 weeks and 19-21 weeks in 23% of women respectively. Congenital fetal anomalies resulting in termination of pregnancy were CNS, musculoskeletal, cardiovascular, renal and multiple anomalies. CNS abnormalities was a major cause of termination of pregnancy which includes meningomyelocele, spina bifida, acrania, anencephaly.Conclusions: In our study conducted at our tertiary care center, CNS abnormalities were the major cause of mid trimester termination of pregnancies, followed by musculoskeletal abnormalities being second most common cause.

396 A 6-Month Audit of Initial Diabetic Foot Assessment and Documentation for Patients Undergoing Major Lower Limb Amputations in An Orthopaedics Ward

Aim To determine if adequate diabetic foot assessment and documentation were done at the Orthopaedics ward for patients undergoing a below-knee amputation (BKA) or above-knee amputation (AKA). Method Retrospective data from August 2019 to January 2020 were taken from paper documentation and e-records from the Orthopaedics ward and operation theatre. Diabetic foot assessments were based on the ASEANPlus guidelines for diabetic foot wounds which included foot inspection (for dermatological or musculoskeletal abnormalities), vascular (palpation of dorsalis pedis and posterior tibial pulses, ABSI measurement) and neurological assessments (testing of sensation and ankle reflexes). The assessments were deemed “adequate” or “inadequate” based on the information found on documentation. Results Only 67/81 data pieces were available for analysis (AKA=26, BKA=41), with an average age of 60 years. Inspection of the foot was most adequately assessed and documented (100%), followed by vascular and neurological assessment. For vascular assessment, palpation of pulses was done in 94% cases, and ABSI was performed in 76%. For neurological assessment, assessment of sensation was performed in 55%, while ankle reflexes were only assessed and documented in 25% cases. Conclusions Overall, the local practice had poor documentation of diabetic foot assessment, especially in vascular and neurological assessments. Possible reasons for poor practice include lack of guidance for incoming junior doctors starting their Orthopaedics rotation, and subsequently, the lack of skills and confidence in performing said assessments. Measures that could be done to improve the quality of practice include teaching key examinations to junior staff and having closer monitoring of notes documentation during ward rounds.

Traditional Medicinal Vegetables in Northern Uganda: An Ethnobotanical Survey

Background. A wide range of indigenous vegetables grow in Uganda especially during rainy seasons but scarcely during droughts, except those that are commercially grown. Although a number of these vegetables have medicinal values, they have not been satisfactorily studied besides conservation. Therefore, we conducted a cross-sectional ethnobotanical survey in Northern Uganda in order to document traditional medicinal vegetables and their uses. Methods. Qualitative and quantitative approaches of data collection and analysis were employed using semistructured, interviewer-administered questionnaires as well as key informant interviews following international ethical codes. Fidelity levels and informant consensus factors were also calculated. Results. 13 traditional vegetables belonging to 10 families were reported to serve as folk medicines. The most dominant families were Fabaceae (23.08%) and Solanaceae (15.38%). The most often used vegetables were Corchorus spp., Hibiscus spp., and Asystasiagangeticafor musculoskeletal (51%), gastrointestinal (34.3%), and malaria (31.8%). The vegetables were cultivated in the backyard and the leaves stewed for the different ailments. The informant consensus factor was the highest for Corchorus spp., in the treatment of joint pain/stiffness (0.92-1) while the highest fidelity level was (60.42%) for Amaranthus spp., in the management of anemia. Conclusions. Northern Uganda has numerous traditional vegetables with medicinal benefits. Diseases treated range from gastrointestinal to reproductive through musculoskeletal abnormalities. The community obtains vegetable leaves from the backyard and stews them regularly for the medicinal purposes with no specific dosage. Therefore, we recommend studies to verify in laboratory models the efficacy of these vegetables and standardize the dosages.

Neglected intrauterine bilateral congenital knee dislocation

Bilateral congenital knee dislocation is a rare deformity which may present with other musculoskeletal abnormalities. In the early period, conservative treatment options have a high chance of success. However, in later stages, surgical treatment is indicated in neglected or unresponsive cases to manipulation in the early period. Herein, we present a rare case of bilateral congenital knee dislocation which was diagnosed after birth. Retrospective examination revealed that it occurred in the antenatal period and neglected.

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Background. Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects. Two most common genetic subtypes are EDMD1 due to EMD and EDMD2 caused by LMNA gene mutations. The aim of the study was to characterize and compare the cardiac morphology and function in the two main genetic subgroups of EDMD with the use of echocardiography. Methods. 41 patients with EDMD (29 EDMD1 and 12 EDMD2) as well as 25 healthy controls were enrolled in our study. Transthoracic echo with the use of a prescribed protocol was performed. Results. Highly statistically significant differences with regard to left ventricle (LV) volumes between the EDMD and the control group were found. 51% of EDMD patients had an enlarged left atrium and as many as 71% had an enlarged right atrium. The LV ejection fraction (LVEF) was significantly lower in EDMD patients than in the control group which corresponded also with a lower systolic velocity of the mitral annulus. 43% of EDMD patients had LVEF below the normal limit. Diastolic dysfunction was detected in 17% of EDMD patients. There were no significant differences between the two types of EDMD in terms of diameters and volumes of any chamber, as well as the systolic function of both left and right ventricles. Conclusions. A significant number of EDMD patients present LV dilatation and different degrees of systolic dysfunction. Dilatation of the atria dominates over ventricle dilatation. We did not present any significant differences between EDMD1 and EDMD2 in terms of the morphology and the function of the heart.

A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5

The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short arm of chromosome 5. The syndrome was first described by A. Kleczkowska et al. in 1987. According to the literature, large duplications of the chromosome 5 short arm are associated with pronounced phenotypic manifestations, delayed speech and mental development, as well as congenital cardiac, brain and musculoskeletal malformations. We present a description of a clinical case of extended inverted duplication with deletion of the chromosome 5 short arm in a girl with a mild phenotype and no visceral or musculoskeletal abnormalities; we also discuss the pathogenetic mechanisms of chromosomal rearrangement, and conduct a comparative analysis of phenotypic manifestations based on the available literature. Comprehensive molecular cytogenetic assessments have demonstrated that the duplicated site has a length of 29 Mb (5p13.3p15.33), and the deleted site of the subtelomeric region distal to 5p15.33 has a length of 110 kb.

Traditional Medicinal vegetables in Northern Uganda. An ethnobotanical survey.

Background A wide range of indigenous vegetables grow in Uganda especially during rainy seasons but scarcely during droughts, except those that are commercially grown. Although a number of these vegetables have medicinal values, they have not been satisfactorily studied besides conservation. Therefore, we conducted an ethnobotanical cross-sectional survey in Northern Uganda in order to document traditional vegetables and their medicinal values. Methods An ethnobotanical survey was conducted in Northern Uganda using both qualitative and quantitative data collection approaches to data collection and analysis. Data was collected using semi-structured, interviewer-administered questionnaires following international ethical codes and key informant interviews using well developed key informant guides. A total of 244 individuals participated in the study. Results The study documented forty five (45) traditional vegetables in Northern Uganda, out of which fifteen (15) also served as folk medicine. These included: Amalakwang (Hibiscus sabdariffa), Akeo (Gynandropsis gynandra), Alaju (Asystasia gangetica), Otigo (Corchorus spp.), Ocwica (Cucubita maxima), and Bojo (Vigna unguiculata) among others. The disease conditions managed using traditional vegetables in the study area included: gastrointestinal, reproductive, musculoskeletal complications as well as non-communicable diseases.Conclusion Northern Uganda has numerous traditional vegetables with medicinal benefits such as gastrointestinal, reproductive and musculoskeletal abnormalities. The community obtains vegetable leaves from the backyard and stews them for the medicinal purposes. However, there was no specific dosage administered. Therefore, we recommend studies to standardize the dosages and verify in laboratory models the efficacy of these vegetables.

High methionine diet in skeletal muscle remodeling: Epigenetic mechanism of homocysteine mediated growth retardation

Epigenetic DNA methylation is crucial for gene-imprinting/off-printing ensuring epigenetic memory but generates copious homocysteine (Hcy) unequivocally. That is why during pregnancy mothers are recommended ‘folic acid’ to avoid birth-defects because of elevated Hcy levels (hyperhomocysteinemia; HHcy). Children born with HHcy have musculoskeletal abnormalities/growth retardation. We focus on gut-dysbiotic microbiome implication that instigates “1-carbon metabolism” and HHcy causing growth retardation along with muscle abnormalities. We test hypothesis whether high methionine diet (HMD, an amino acid high in red-meat) a substrate for Hcy can cause skeletal muscle and growth retardation and treatment with probiotics (PB) mitigate muscle dysfunction. We employed cystathionine beta synthase; CBS deficient mouse; CBS+/- fed with/without HMD and with/without a probiotic in drinking water for 16 weeks. Matrix metalloproteinase activity; a hallmark of remodeling was measured by zymography. Muscle functions were scored via electric stimulation. Our results suggest that compared to WT, CBS+/- mice exhibited reduced growth. MMP-2 activity was robust in CBS+/- and HMD effects were attenuated by PB intervention. Electrical stimulation magnitude was decreased in CBS+/- and CBS+/- treated with HMD. Interestingly; PB mitigated muscle growth retardation and atrophy. Collectively, results imply that individuals with mild/moderate HHcy seem more prone to skeletal muscle injury and its dysfunction