Rubella is a highly contagious mild viral illness. It is a leading cause of congenital rubella syndrome (CRS). Routine data of rubella do not exist in Ethiopia. However, laboratory-based conformation of rubella cases from measles negative samples were collected from a measles surveillance system. The current study was to analyse the epidemiological distribution of rubella cases from measles-suspected cases in Ethiopia from 2011 to 2015. National-based secondary data analysis of rubella through measles-based surveillances was carried out. Measles-suspected cases were investigated using the case investigation form, and a serum sample collected and sent to the Ethiopian laboratory for conformation. Samples tested for measles immunoglobulin M (IgM) were tested for rubella. The investigation results were entered into an electronic database using SPSS version 25 for analysis. Out of 11749 samples tested for rubella IgM from 2011 to 2015, 2295 (19.5%) were positive for rubella IgM and 51% of rubella-positive cases were female. Five per cent of all cases were female aged between 15 and 49. Cases were confirmed from all regions, two administrative towns and seasonal variations were observed with peaks in the first and fourth seasonal periods of the years. As fear of congenital abnormality (CRS), the Ethiopian government should focus on rubella syndrome surveillance with the aim of starting a rubella vaccine.

Due to the high incidence of COVID-19 case numbers internationally, the World Health Organization (WHO) declared a Public Health Emergency of global relevance, advising countries to follow protocols to combat pandemic advance through actions that can reduce spread and consequently avoid a collapse in the local health system. This study aimed to evaluate the dynamics of the evolution of new community cases, and mortality records of COVID-19 in the State of Pará, which has a subtropical climate with temperatures between 20 and 35 °C, after the implementation of social distancing by quarantine and adoption of lockdown. The follow-up was carried out by the daily data from the technical bulletins provided by the State of Pará Public Health Secretary (SESPA). On 18 March 2020, Pará notified the first case of COVID-19. After 7 weeks, the number of confirmed cases reached 4756 with 375 deaths. The results show it took 49 days for 81% of the 144 states municipalities, distributed over an area of approximately 1 248 000 km2 to register COVID-19 cases. Temperature variations between 24.5 and 33.1 °C did not promote the decline in the new infections curve. The association between social isolation, quarantine and lockdown as an action to contain the infection was effective in reducing the region's new cases registration of COVID-19 in the short-term. However, short periods of lockdown may have promoted the virus spread among peripheral municipalities of the capital, as well as to inland regions.

Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903–915)

Dravet syndrome (DS) is a severe epilepsy syndrome characterized by early onset of multiple types of seizures. We report the first case of reflex seizures triggered by diaper change in a girl at 9 months old and 2 years old with a mutation in the SCN1A gene causing DS. Reflex seizures have been reported in patients with DS provoked by increased body temperature or visual stimulation. The case we report widens the spectrum of triggers causing reflex seizures in children with DS. Cortical hyperexcitability resulting from the genetic defect explains the tendency to experience such reflex seizures.

CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome.

Rare diseases represent a major public health challenge due to their number, presently estimated to be between 6000 and 8000, their severity and the absence of any preventive treatment. The enactment of two National Plans for Rare Diseases by the establishment of Referral Centers and Diagnosis and Treatment Centers has brought about a recognition of the specificity of these disorders, the creation of a epidemiological database, a framework for rapid diagnosis protocols at the first symptoms, greater access to specialized care to accompany the afflicted and their families during their frequently difficult medico-social journey, training of skilled health professionals in the field of these rare diseases, promotion of basic and clinical research and finally the development of European partnerships in both research and therapeutic planning.

The dental surgeon can feel inadequate when confronted with a rare disease: (a) difficult diagnosis, (b) therapeutic complexity, (c) and questioning by the parents, are three major obstacles that we have to overcome in order to carry out our therapy. Even if the field of genetics has made major advances during the last few years, it is clinical knowledge, above all, that leads us to a diagnosis. Certain syndromes present with very subtle signs which alone can appear trivial but which, taken together, defines a pathological entity. To know or to discover these signs and to recognize them is therefore the first challenge.

Most patients with squamous cancer of the head and neck treated at Groote Schuur Hospital are from a poor socio-economic background with a high prevalence of tuberculosis (TB), human immunodeficiency virus (HIV) and other infections that may cause cervical lymphadenopathy resulting in overstaging of the neck.

A retrospective review of 186 patients requiring therapeutic and elective neck dissection was undertaken and the sensitivity and specificity of clinical and intra-operative staging of the neck determined.

Results showed overall sensitivity of staging at 80.1 per cent. Specificity was 52.2 per cent. Staging of the N1, N2b and N2c necks had positive predictive values of 53.2, 65.8 and 68.2 per cent respectively. Occult nodal metastases were present in 32 per cent elective neck dissections (END)s. Specificity of intra-operative staging of the N0 neck was 33.3 per cent and sensitivity was 72.4 per cent.

Conclusions were that our indications for elective neck dissection are appropriate. The high false positive rates for staging of the N1, N2b and N2c necks, necessitate a change in management strategy.

A case of Coffin-Lowry syndrome is described. The child had the typical face and also soft and puffy hands with tapering fingers. His psychomotor development was retarded. Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones. It is inferred that deafness is one of the symptoms of this syndrome.