Approaching a Dysmorphic Newborn

Background: Dysmorphology combines concepts, knowledge and techniques from field of embryology, clinical genetics and pediatrics. It deals with people who have congenital abnormalities and their families. Clinical delineation of dysmorphism and dysmorphic syndromes is crucial for patient management and family counseling. Patients and Method: Forty case mothers and neonates, 83 control mothers and neonates were recruited in the study. Face to face interviews were conducted with the mothers of both cases and controls. Case's mothers and neonates were subjected to certain investigations according to dysmorphic anomaly and when needed. Results: The study showed that increased risk of having a dysmorphic child was associated with high consumption of legumes and the use of kerosene in cooking stoves. Their Odd Ratio (OR) and Confidence Interval (CI) respectively were [OR=15558.0; CI 137.0-17716.2] and [OR=186.7; CI 42.3-824.5]. Maternal demographic risk factors were, medication intake (OR=29.62; CI 3.38-112.5), diseases during pregnancy (OR=24.13; CI 5.92-114.18), maternal occupation (OR=15.4; CI 1.78-132.8), and educational attainment (OR=2.85; CI 1.19-6.86). In rural areas the rate of having dysmorphic child is higher than that in urban areas (OR=11.85; CI 3.60-38.99), (p-value=0.00). Consanguinity (OR=4.35; CI 1.927-9.796), was a key risk factor contributing to dysmorphology. Drinking water which is obtained by pumps was significant in this study (OR=27.3; CI 3.4-222.7) as well as ghee consumption (OR=6.3; CI 2.4-16.4). Conclusion: In conclusion, the considerable challenge posed by dysmorphic abnormalities calls for the development of prevention programs through the establishment of community genetic services particularly those related to maternal education and environmental exposures. These primary prevention measures should be integrated into primary health care. Keywords: Dysmorphology, morphogenesis, dysmorphic syndromes, teratology, ecogenetics Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 23-4

Estimation of subnational tuberculosis burden: generation and application of a new tool in Indonesia.

SETTING: In many high tuberculosis (TB) burden countries, there is substantial geographical heterogeneity in TB burden. In addition, decisions on TB funding and policy are highly decentralised. Subnational estimates of burden, however, are usually unavailable for planning and target setting.OBJECTIVE and DESIGN: We developed a statistical model termed SUBsET to estimate the distribution of the national TB incidence through a weighted score using selected variables, and applied the model to the 514 districts in Indonesia, which have substantial policy and budgetary autonomy in TB. Estimated incidence was compared to reported facility and domicile-based notifications to estimate the case detection rate (CDR). Local stakeholders led model development and dissemination.RESULTS: The final SUBsET model included district population size, level of urbanisation, socio-economic indicators (living floor space and high school completion), human immunodeficiency virus prevalence and air pollution. We estimated district-level TB incidence to be between 201 and 2,485/100 000/year. The facility-based CDR varied between 0 and 190%, with high variation between neighbouring districts, suggesting strong cross-district health utilisation, which was confirmed by domicile-based CDR estimation. SUBsET results informed district-level TB action plans across Indonesia.CONCLUSION: The SUBsET model could be used to estimate the subnational burden in high-burden countries and inform TB policymaking at the relevant decentralised administrative level

Peningkatan Keterampilan Tata Kelola Keuangan Keluarga bagi Pengelola Posbindu Dahlia Petukangan Selatan

Abstrak Program Pengabdian Kepada Masyarakat yang laksanakan Posbindu Dahlia dikelola oleh ibu ibu warga RW 1 Kelurahan Petukangan Selatan Jakarta Selatan, bertujuan untuk peningkatan keterampilan tata kelola keuangan keluarga. Hal ini dilakukan mengingat dari hasil survai awal menunjukkan bahwa tingkat pengetahuan tentang tata kelola keuangan keluarga yang dimiliki para ibu pengelola Posbindu masih rendah. Termasuk di dalamnya tentang perencanaan, penentuan prioritas pengeluaran keuangan dan pencatatan keuangan keluarga. Metode pelatihan dilakukan dengan cara pemaparan materi dan simulasi pengisian buku kerja tentang pembuatan perencanaan keuangan keluarga, penentuan prioritas pengeluaran rumah tangga. Pelatihan ini dipandu oleh para dosen dari Fakultas Ekonomi Dan Bisnis Universitas Budi Luhur. Hasil dari program pengabdian ini, para ibu pengelola Posbindu Dahlia sangat antusias, terbukti dari munculnya beragam pertanyaan. Mereka menjadi lebih paham tentang membuat perencanaan, alokasi penghasilan berdasarkan prioritas kebutuhan bukan keinginan, sehingga masih ada peluang untuk menabung demi kepentingan masa depan

Is there a cranial nerve other than the 7th co- involved in bell’s palsy? Answer to the systematic review

Bell’s palsy is characterised by one-sided lower motor neuron impairment of the facial nerve. Even though Bell’s palsy is a peripheral facial nerve palsy, other cranial nerves should be investigated, because they are anatomically interconnected rather than isolated. The study aimed to look for evidence of other cranial nerves being involved in Bell’s palsy. CINAHL, Academic Search Complete, MEDLINE, SPORTDiscus, and Scopus, all of which were updated until May 2021, were used to conduct a comprehensive search. Bell’s palsy research focused on the origins and cause of the condition, regardless of study design, was eligible for inclusion. Animal research, non-English studies, grey literature, studies with no full text available, and those published in non-peer-reviewed journals, were excluded. While 3883 papers were found during the initial search, only 13 were included in the final study. The Joanna Briggs Institute Manual for Evidence Synthesis and Sackett’s standard of evidence was used to assess the validity of the papers that were screened. The most common type was case series (n=5), followed by case-control (n=4), case report (n=3), and cross-sectional (n=1). Most of the articles were categorised as Level-IV (n=8), followed by Level-V (n=3), with only two studies classified as Level- III (n=2) by Sackett’s criteria. The trigeminal and vestibulocochlear nerves are the most involved cranial nerves in Bell’s palsy. The optic, oculomotor, trigeminal, vestibulocochlear, glossopharyngeal, vagus, and hypoglossal nerves are the seven cranial nerves potentially associated with Bell’s palsy

BRAFV600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas

Frequency of a BRAFV600E mutation in anaplastic thyroid carcinoma, which is thought to be derived mainly from papillary carcinoma by multi-step carcinogenesis, is much lower than that in papillary carcinomas. To clarify this phenomenon, we analysed BRAFV600E mutation in 20 cases of anaplastic carcinoma and 13 accompanying differentiated carcinomas. Among twenty cases of anaplastic carcinomas, nine and four accompanied papillary and follicular carcinomas, respectively. BRAFV600E mutation was found in four (20%) cases. BRAFV600E mutation was found in three of nine (33.3%), none of four and one of seven (14.3%) anaplastic carcinomas with papillary carcinoma, follicular carcinoma and without differentiated components, respectively. All three papillary carcinomas accompanied by anaplastic carcinoma with a BRAFV600E mutation were also shown to have a BRAFV600E mutation. In summary, BRAFV600E mutation was occasionally observed in anaplastic carcinomas with papillary carcinoma, and the low frequency of BRAFV600E mutation in anaplastic carcinoma was thought to be due to the low frequency of anaplastic carcinomas with papillary carcinoma. These findings raise a question about the classical model of anaplastic transformation and suggest some roles of thyroid cancer stem cells in the generation of anaplastic carcinoma

Screening of Tanzanian medicinal plants for anti-Candida activity

BACKGROUND: Candida albicans has become resistant to the already limited, toxic and expensive anti-Candida agents available in the market. These factors necessitate the search for new anti-fungal agents. METHODS: Sixty-three plant extracts, from 56 Tanzanian plant species obtained through the literature and interviews with traditional healers, were evaluated for anti-Candida activity. Aqueous methanolic extracts were screened for anti-Candida activity by bioautography agar overlay method, using a standard strain of Candida albicans (ATCC 90028). RESULTS: Twenty- seven (48%) out of the 56 plants were found to be active. Extracts of the root barks of Albizia anthelmintica and Balanites aegyptiaca, and roots of Plectranthus barbatus showed strong activity. CONCLUSION: The extracts that showed strong anti-Candida activity are worth of further investigation in order to isolate and identify the active compounds

Trends in HIV/AIDS morbidity and mortality in Eastern 3 Mediterranean countries, 1990–2015: findings from the Global 4 Burden of Disease 2015 study

Objectives We used the results of the Global Burden of Disease 2015 study to estimate trends of HIV/AIDS burden in Eastern Mediterranean Region (EMR) countries between 1990 and 2015. Methods Tailored estimation methods were used to produce final estimates of mortality. Years of life lost (YLLs) were calculated by multiplying the mortality rate by population by age-specific life expectancy. Years lived with disability (YLDs) were computed as the prevalence of a sequela multiplied by its disability weight. Results In 2015, the rate of HIV/AIDS deaths in the EMR was 1.8 (1.4–2.5) per 100,000 population, a 43% increase from 1990 (0.3; 0.2–0.8). Consequently, the rate of YLLs due to HIV/AIDS increased from 15.3 (7.6–36.2) per 100,000 in 1990 to 81.9 (65.3–114.4) in 2015. The rate of YLDs increased from 1.3 (0.6–3.1) in 1990 to 4.4 (2.7–6.6) in 2015. Conclusions HIV/AIDS morbidity and mortality increased in the EMR since 1990. To reverse this trend and achieve epidemic control, EMR countries should strengthen HIV surveillance,and scale up HIV antiretroviral therapy and comprehensive prevention services

The dominant Anopheles vectors of human malaria in Africa, Europe and the Middle East: occurrence data, distribution maps and bionomic précis

<p>Abstract</p> <p>Background</p> <p>This is the second in a series of three articles documenting the geographical distribution of 41 dominant vector species (DVS) of human malaria. The first paper addressed the DVS of the Americas and the third will consider those of the Asian Pacific Region. Here, the DVS of Africa, Europe and the Middle East are discussed. The continent of Africa experiences the bulk of the global malaria burden due in part to the presence of the <it>An. gambiae </it>complex. <it>Anopheles gambiae </it>is one of four DVS within the <it>An. gambiae </it>complex, the others being <it>An. arabiensis </it>and the coastal <it>An. merus </it>and <it>An. melas</it>. There are a further three, highly anthropophilic DVS in Africa, <it>An. funestus</it>, <it>An. moucheti </it>and <it>An. nili</it>. Conversely, across Europe and the Middle East, malaria transmission is low and frequently absent, despite the presence of six DVS. To help control malaria in Africa and the Middle East, or to identify the risk of its re-emergence in Europe, the contemporary distribution and bionomics of the relevant DVS are needed.</p> <p>Results</p> <p>A contemporary database of occurrence data, compiled from the formal literature and other relevant resources, resulted in the collation of information for seven DVS from 44 countries in Africa containing 4234 geo-referenced, independent sites. In Europe and the Middle East, six DVS were identified from 2784 geo-referenced sites across 49 countries. These occurrence data were combined with expert opinion ranges and a suite of environmental and climatic variables of relevance to anopheline ecology to produce predictive distribution maps using the Boosted Regression Tree (BRT) method.</p> <p>Conclusions</p> <p>The predicted geographic extent for the following DVS (or species/suspected species complex*) is provided for Africa: <it>Anopheles </it>(<it>Cellia</it>) <it>arabiensis</it>, <it>An. </it>(<it>Cel.</it>) <it>funestus*</it>, <it>An. </it>(<it>Cel.</it>) <it>gambiae</it>, <it>An. </it>(<it>Cel.</it>) <it>melas</it>, <it>An. </it>(<it>Cel.</it>) <it>merus</it>, <it>An. </it>(<it>Cel.</it>) <it>moucheti </it>and <it>An. </it>(<it>Cel.</it>) <it>nili*</it>, and in the European and Middle Eastern Region: <it>An. </it>(<it>Anopheles</it>) <it>atroparvus</it>, <it>An. </it>(<it>Ano.</it>) <it>labranchiae</it>, <it>An. </it>(<it>Ano.</it>) <it>messeae</it>, <it>An. </it>(<it>Ano.</it>) <it>sacharovi</it>, <it>An. </it>(<it>Cel.</it>) <it>sergentii </it>and <it>An. </it>(<it>Cel.</it>) <it>superpictus*</it>. These maps are presented alongside a bionomics summary for each species relevant to its control.</p

Global, regional, and national burden of traumatic brain injury and spinal cord injury, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.

Traumatic brain injury (TBI) and spinal cord injury (SCI) are increasingly recognised as global health priorities in view of the preventability of most injuries and the complex and expensive medical care they necessitate. We aimed to measure the incidence, prevalence, and years of life lived with disability (YLDs) for TBI and SCI from all causes of injury in every country, to describe how these measures have changed between 1990 and 2016, and to estimate the proportion of TBI and SCI cases caused by different types of injury. METHODS: We used results from the Global Burden of Diseases, Injuries, and Risk Factors (GBD) Study 2016 to measure the global, regional, and national burden of TBI and SCI by age and sex. We measured the incidence and prevalence of all causes of injury requiring medical care in inpatient and outpatient records, literature studies, and survey data. By use of clinical record data, we estimated the proportion of each cause of injury that required medical care that would result in TBI or SCI being considered as the nature of injury. We used literature studies to establish standardised mortality ratios and applied differential equations to convert incidence to prevalence of long-term disability. Finally, we applied GBD disability weights to calculate YLDs. We used a Bayesian meta-regression tool for epidemiological modelling, used cause-specific mortality rates for non-fatal estimation, and adjusted our results for disability experienced with comorbid conditions. We also analysed results on the basis of the Socio-demographic Index, a compound measure of income per capita, education, and fertility. FINDINGS: In 2016, there were 27·08 million (95% uncertainty interval [UI] 24·30-30·30 million) new cases of TBI and 0·93 million (0·78-1·16 million) new cases of SCI, with age-standardised incidence rates of 369 (331-412) per 100 000 population for TBI and 13 (11-16) per 100 000 for SCI. In 2016, the number of prevalent cases of TBI was 55·50 million (53·40-57·62 million) and of SCI was 27·04 million (24·98-30·15 million). From 1990 to 2016, the age-standardised prevalence of TBI increased by 8·4% (95% UI 7·7 to 9·2), whereas that of SCI did not change significantly (-0·2% [-2·1 to 2·7]). Age-standardised incidence rates increased by 3·6% (1·8 to 5·5) for TBI, but did not change significantly for SCI (-3·6% [-7·4 to 4·0]). TBI caused 8·1 million (95% UI 6·0-10·4 million) YLDs and SCI caused 9·5 million (6·7-12·4 million) YLDs in 2016, corresponding to age-standardised rates of 111 (82-141) per 100 000 for TBI and 130 (90-170) per 100 000 for SCI. Falls and road injuries were the leading causes of new cases of TBI and SCI in most regions. INTERPRETATION: TBI and SCI constitute a considerable portion of the global injury burden and are caused primarily by falls and road injuries. The increase in incidence of TBI over time might continue in view of increases in population density, population ageing, and increasing use of motor vehicles, motorcycles, and bicycles. The number of individuals living with SCI is expected to increase in view of population growth, which is concerning because of the specialised care that people with SCI can require. Our study was limited by data sparsity in some regions, and it will be important to invest greater resources in collection of data for TBI and SCI to improve the accuracy of future assessments

Global, regional, and national cancer incidence, mortality, years of life lost, years lived with disability, and disability-Adjusted life-years for 29 cancer groups, 1990 to 2017 : A systematic analysis for the global burden of disease study

Importance: Cancer and other noncommunicable diseases (NCDs) are now widely recognized as a threat to global development. The latest United Nations high-level meeting on NCDs reaffirmed this observation and also highlighted the slow progress in meeting the 2011 Political Declaration on the Prevention and Control of Noncommunicable Diseases and the third Sustainable Development Goal. Lack of situational analyses, priority setting, and budgeting have been identified as major obstacles in achieving these goals. All of these have in common that they require information on the local cancer epidemiology. The Global Burden of Disease (GBD) study is uniquely poised to provide these crucial data. Objective: To describe cancer burden for 29 cancer groups in 195 countries from 1990 through 2017 to provide data needed for cancer control planning. Evidence Review: We used the GBD study estimation methods to describe cancer incidence, mortality, years lived with disability, years of life lost, and disability-Adjusted life-years (DALYs). Results are presented at the national level as well as by Socio-demographic Index (SDI), a composite indicator of income, educational attainment, and total fertility rate. We also analyzed the influence of the epidemiological vs the demographic transition on cancer incidence. Findings: In 2017, there were 24.5 million incident cancer cases worldwide (16.8 million without nonmelanoma skin cancer [NMSC]) and 9.6 million cancer deaths. The majority of cancer DALYs came from years of life lost (97%), and only 3% came from years lived with disability. The odds of developing cancer were the lowest in the low SDI quintile (1 in 7) and the highest in the high SDI quintile (1 in 2) for both sexes. In 2017, the most common incident cancers in men were NMSC (4.3 million incident cases); tracheal, bronchus, and lung (TBL) cancer (1.5 million incident cases); and prostate cancer (1.3 million incident cases). The most common causes of cancer deaths and DALYs for men were TBL cancer (1.3 million deaths and 28.4 million DALYs), liver cancer (572000 deaths and 15.2 million DALYs), and stomach cancer (542000 deaths and 12.2 million DALYs). For women in 2017, the most common incident cancers were NMSC (3.3 million incident cases), breast cancer (1.9 million incident cases), and colorectal cancer (819000 incident cases). The leading causes of cancer deaths and DALYs for women were breast cancer (601000 deaths and 17.4 million DALYs), TBL cancer (596000 deaths and 12.6 million DALYs), and colorectal cancer (414000 deaths and 8.3 million DALYs). Conclusions and Relevance: The national epidemiological profiles of cancer burden in the GBD study show large heterogeneities, which are a reflection of different exposures to risk factors, economic settings, lifestyles, and access to care and screening. The GBD study can be used by policy makers and other stakeholders to develop and improve national and local cancer control in order to achieve the global targets and improve equity in cancer care. © 2019 American Medical Association. All rights reserved.Peer reviewe