Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.

IMMUNOLOGICAL PROFILES IN HIV POSITIVE PATIENTS FOLLOWING HAART INITIATION IN KIGALI, RWANDA.

BACKGROUND: Interleukin-10, IL-2 and IFN-γ are some of the crucial cytokines associated with HIV infection and pathogenesis. While IL-2 and IFN-γ play critical roles in host resistance to infection, IL-10 inhibits the synthesis IFN-γ, IL-2 at mRNA and protein level; exacerbating damage to immune system. OBJECTIVE: To determine the levels of, changes in and correlation between CD4 count, viral load, IL-10, IL-2 and IFN-γ before HAART and at six months of HAART among HIV positive patients in Kigali; with a view to understand cytokine networks particularly in relation to HAART; and to see whether they can be used as alternative markers of the disease progression. DESIGN: Longitudinal study. SETTING: Kagugu, Kimironko, Biryogo, Gitega Health Centres and Centre Medico-Social Cornum; all located in Kigali. SUBJECTS: Thirty three (33) HAART initiation eligible HIV positive patients including 13 women and 20 men. RESULTS: A drop in viral load (though only a small number of patients achieved an undetectable viraemia); a recovery of CD4+ cells, a decrease in IL-10 (though it remained high for many patients especially those with unchanged viraemia); and an increase in IL-2 and IFN-γ indicated a successful HAART. A negative correlation between CD4 count and viral load and between CD4 count and IL-10 (but r < -0.5) was observed. IL-10 correlated positively and strongly with viremia (r > 0.5 at both time points: p-values < 0.05). There was no significant correlation between CD4 count, IL-2 and IFN-y. CONCLUSION: Results demonstrated the down-regulatory effect of IL-10 on Th1 cytokines and that a shift from Th1 to Th2 cytokine is associated with HIV disease progression. A successful HAART results in CD4+ cells recovery, drop in viraemia and IL-10 with up-regulation of Th1 cytokines. Also, findings show potential usefulness of IL-10 as a marker of HIV disease progression.

RISK OF RED BLOOD CELL ALLOIMMUNISATION IN RWANDA: ASSESSMENT OF PRETRANSFUSION CROSSMATCH TECHNIQUES USED IN DISTRICT HOSPITALS.

BACKGROUND: Screening of alloantibodies in patients is not yet done in district hospitals of Rwanda. The practice is to transfuse ABO/D compatible blood following an immediate spin crossmatch (IS-XM) or indirect antiglobulin test crossmatch (IAT-XM). OBJECTIVES: To assess the risk of red blood cell (RBC) alloimmunisation associated with the use of IS-XM compared to the IAT-XM in patients receiving blood transfusions in district hospitals in Rwanda. DESIGN: A cross-sectional comparative descriptive study. SETTING: Four Rwandan district hospitals. Kirehe and Nyanza hospitals used IS-XM while Muhima and Ruhengeri hospitals used IAT-XM. SUBJECTS: Blood samples were obtained from 187 patients (101 with IS-XM and 86 with IAT-XM) transfused in January, February, October, and November of 2012. RESULTS: The median age of blood recipients was 31 years (7 - 80) and 36% of them were male. Sixteen specific antibodies were identified in 12 patients: anti-RH1/D (2),anti-RH2/C (2), anti-RH3/E (2), anti-RH4/c (1), anti-RH5/e (2),anti-LE1/Lea (2),anti-JK1/Jka (1), anti-JK2/Jkb (1), anti-KEL1/K (1), anti-MNS1/M (1), and autoantibody (1).The global prevalence of redblood cell (RBC) alloimmunisationwas 6.4% (12/187). Thatprevalence was significantly higher in the IS-XM group (10.4%) than in the IAT-XM group (2.3%) with an odds ratio of 4.8; [95% CI=1.2-19.8]; and a p-value of 0.031. CONCLUSION: The prevalence of red blood cell (RBC) alloimmunisation in 187 patients receiving blood transfusions was 6.4% and was higher in recipients from hospitals using IS-XM, with Rhesus (RH) system antibodies widely predominant (56.2%).We recommend that IAT-XM be used in all district hospitals in Rwanda to minimise this risk.

Electroencephalography and psychological assessment datasets to determine the efficacy of a low-cost, wearable neurotechnology intervention for reducing Post-Traumatic Stress Disorder symptom severity.

The datasets described here comprise electroencephalography (EEG) data and psychometric data freely available on data.mendeley.com. The EEG data is available in .mat formatted files containing the EEG signal values structured in two-dimensional (2D) matrices, with channel data and trigger information in rows, and samples in columns (having a sampling rate of 250Hz). Twenty-nine female survivors of the 1994 genocide against the Tutsi in Rwanda, underwent a psychological assessment before and after an intervention aimed at reducing Post-Traumatic Stress Disorder (PTSD) symptom severity. Three measures of trauma and four measures of wellbeing were assessed using empirically validated standardised assessments. The pre- and post- intervention psychometric data were analysed using non-parametric statistical methods and the post-intervention data were further evaluated according to diagnostic assessment rules to determine clinically relevant improvements for each group. The participants were assigned to a control group (CG, n = 9), a motor-imagery group (MI, n = 10), and a neurofeedback group (NF, n = 10). Participants in the latter two groups received Brain-Computer Interface (BCI) based training as a treatment intervention over a sixteen-day period, between the pre- and post- clinical interviews. The training involved presenting feedback visually via a videogame, based on real-time analysis of the EEG recorded data during the BCI-based treatment session. Participants were asked to regulate (NF) or intentionally modulate (MI) brain activity to affect/control the game.

Neurofeedback with low-cost, wearable electroencephalography (EEG) reduces symptoms in chronic Post-Traumatic Stress Disorder.

BACKGROUND: The study examines the effectiveness of both neurofeedback and motor-imagery brain-computer interface (BCI) training, which promotes self-regulation of brain activity, using low-cost electroencephalography (EEG)-based wearable neurotechnology outside a clinical setting, as a potential treatment for post-traumatic stress disorder (PTSD) in Rwanda. METHODS: Participants received training/treatment sessions along with a pre- and post- intervention clinical assessment, (N = 29; control n = 9, neurofeedback (NF, 7 sessions) n = 10, and motor-imagery (MI, 6 sessions) n = 10). Feedback was presented visually via a videogame. Participants were asked to regulate (NF) or intentionally modulate (MI) brain activity to affect/control the game. RESULTS: The NF group demonstrated an increase in resting-state alpha 8-12 Hz bandpower following individual training sessions, termed alpha 'rebound' (Pz channel, p = 0.025, all channels, p = 0.024), consistent with previous research findings. This alpha 'rebound', unobserved in the MI group, produced a clinically relevant reduction in symptom severity in NF group, as revealed in three of seven clinical outcome measures: PCL-5 (p = 0.005), PTSD screen (p = 0.005), and HTQ (p = 0.005). LIMITATIONS: Data collection took place in environments that posed difficulties in controlling environmental factors. Nevertheless, this limitation improves ecological validity, as neurotechnology treatments must be deployable outside controlled environments, to be a feasible technological treatment. CONCLUSIONS: The study produced the first evidence to support a low-cost, neurotechnological solution for neurofeedback as an effective treatment of PTSD for victims of acute trauma in conflict zones in a developing country.

Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.

Heterozygote deletions or mutations of pseudoautosomal 1 region (PAR1) encompassing the short stature homeobox-containing (SHOX) gene cause Leri-Weill Dyschondrosteosis (LWD), which is a dominantly inherited osteochondroplasia characterized by short stature with mesomelic shortening of the upper and lower limbs and Madelung deformity of the wrists. SHOX is expressed by both sex chromosomes in males and females and plays an important role in bone growth and development. Clinically, the LWD expression is variable and more severe in females than males due to sex differences in oestrogen levels. Here, we report two familial cases of LWD with a large Xp terminal deletion (approximately 943 kb) of distal PAR1 encompassing the SHOX gene. In addition, the proband had mental retardation which appeared to be from recessive inheritance in the family.

Precocious puberty associated with partial trisomy 18q and monosomy 11q.

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,der(11)t(11;18)(q24;q13). To the best of our knowledge, this is the first report of precocious puberty associated with either dup(18q) or del(11q) syndromes.

[Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient]. / Le syndrome de Hutchinson-Gilford (progèria): analyse clinique et moléculaire chez une patiente d'origine africaine.

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease characterized by an early onset of several clinical features including premature ageing in children. Approximately 80% of HGPS cases are caused by a de novo single-base pair substitution c.1824 C>T (GGC > GGT, p.Gly608Gly) within the exon 11 of the LMNA gene which codes for lamins A and C proteins. This mutation creates an abnormal splice donor site, leading to the formation of a truncated lamin A protein. Only a very few cases of African patients with HGPS have been reported, but none of them has been characterized at the molecular level. We report here a 12 year-old-girl African patient with HGPS, in whom the p.Gly608Gly heterozygous disease-causing mutation was found.

Prevalence of rheumatic valvular heart disease in Rwandan school children: echocardiographic evaluation using the World Heart Federation criteria.

BACKGROUND: Rheumatic fever (RF) and rheumatic valvular heart disease (RHD) remain important medical, surgical and public health concerns in many parts of the world, especially in sub-Saharan Africa. However, there are no published data from Rwanda. We performed a RHD prevalence study in a randomly selected sample of Rwandan school children using the 2012 World Heart Federation (WHF) criteria. METHODS: Echocardiographic assessment of 2 501 Rwandan school children from 10 schools in the Gasabo district near Kigali was carried out. Resulting data were evaluated by four experienced echocardiographers. Statistical analyses were carried out by statisticians. RESULTS: RHD prevalence was 6.8/1 000 children examined (95% CI: 4.2/1 000-10.9/1 000). Seventeen met WHF criteria for RHD, 13 fulfilled criteria for 'borderline' RHD and four were 'definite' RHD. None of these 17 had been previously identified. CONCLUSION: These data indicate a significant burden of RHD in Rwanda and support a need for defined public health RF control programmes in children there.