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1.
Data Brief ; 42: 108066, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35434211

RESUMEN

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.

2.
J Affect Disord ; 295: 1319-1334, 2021 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-34706446

RESUMEN

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.


Asunto(s)
Interfaces Cerebro-Computador , Neurorretroalimentación , Trastornos por Estrés Postraumático , Dispositivos Electrónicos Vestibles , Electroencefalografía , Humanos , Trastornos por Estrés Postraumático/terapia
4.
Cardiovasc J Afr ; 28(5): 285-292, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28252675

RESUMEN

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.


Asunto(s)
Ecocardiografía , Enfermedades de las Válvulas Cardíacas/epidemiología , Fiebre Reumática/epidemiología , Cardiopatía Reumática/diagnóstico por imagen , Cardiopatía Reumática/epidemiología , Adolescente , Niño , Ecocardiografía/métodos , Femenino , Humanos , Masculino , Tamizaje Masivo/métodos , Grupos de Población , Prevalencia , Fiebre Reumática/diagnóstico por imagen , Cardiopatía Reumática/clasificación , Factores de Riesgo , Rwanda/epidemiología
5.
Clin Genet ; 92(2): 166-171, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27925162

RESUMEN

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.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Craneofaciales/diagnóstico , Síndrome de Down/diagnóstico , Procesamiento de Imagen Asistido por Computador , Discapacidad Intelectual/diagnóstico , Atrofia Muscular/diagnóstico , Anomalías Múltiples/epidemiología , Anomalías Múltiples/fisiopatología , Adolescente , Adulto , Población Negra , Niño , Preescolar , Anomalías Craneofaciales/epidemiología , Anomalías Craneofaciales/fisiopatología , Síndrome de Down/epidemiología , Síndrome de Down/fisiopatología , Cara/diagnóstico por imagen , Cara/fisiopatología , Femenino , Humanos , Lactante , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/fisiopatología , Masculino , Atrofia Muscular/epidemiología , Atrofia Muscular/fisiopatología , Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/fisiopatología , Población Blanca , Adulto Joven
6.
Rwanda med. j. (Online) ; 73(2): 17-23, 2016.
Artículo en Inglés | AIM (África) | ID: biblio-1269638

RESUMEN

The identification of human remains plays a big role in solving legal and social challenges. To date; significant strides have been made to help positively identify human body remains following both natural and man-made disasters as well as reported cases of missing individuals. Thorough anthropological examination and DNA analysis of the remains can be used to conclusively link the profiles of the remains to persons if a potential living match is available even after a long period of time. We present cases of excavated human remains and samples from Rwanda that were part of both legal and social disputes. Following anthropological examination and DNA analysis; the disputes were conclusively settled. This case report also highlights the possibilities as well as challenges of identifying victim remains of larger calamities such as the 1994 Genocide perpetrated against the Tutsis in Rwanda in which an estimated one million Tutsis lost their lives


Asunto(s)
ADN
7.
Rwanda med. j. (Online) ; 72(4): 17-21, 2015.
Artículo en Inglés | AIM (África) | ID: biblio-1269631

RESUMEN

Rotavirus remains the most common cause of severe childhood diarrhea worldwide and of diarrheal mortality in developing countries. Despite the efforts made by the government of Rwanda and the stakeholders to reduce children mortality; the prevalence of rotavirus among under five children in Rwanda remains to be determined. We conducted a hospital-based cross-sectional study that aimed at determining the prevalence of rotavirus infection in under fie children presenting with gastroenteritis in eight hospitals in Rwanda. From June 2013 and August 2014 we collected and tested stool samples for the presence ofrotavirus using an enzyme immunoassay and a Real Time-Polymerase Chain Reaction for genotyping. In 969 stool samples; 232 (23.94 and 5.1) while the lowest one was observed in March (0.00). Muhima Hospital had the highest prevalence (33.33) whereas Kabgayi and Rwamagana Hospitals had the lowest (15.62 and 18.18; respectively). Male children were more affected than females (25.8 versus 21.5). We found that the prevalence was higher (31.10) in children aged between 12 and 24 months than in other age groups. For genotyping; G9 [P8] was the most prevalent genotype as G9 prevalence was 54.6 whereas [P8] prevalence was 73.9.In conclusion; the prevalence of rotavirus gastroenteritis was high among children aged less than 5 years; and it was different according to age groups and among different hospitals


Asunto(s)
Niño , Gastroenteritis/epidemiología , Prevalencia , Infecciones por Rotavirus
8.
East Afr Med J ; 91(8): 261-6, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26862650

RESUMEN

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.


Asunto(s)
Terapia Antirretroviral Altamente Activa , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/inmunología , Interleucina-10/sangre , Células TH1/inmunología , Células Th2/inmunología , Carga Viral/efectos de los fármacos , Adulto , Terapia Antirretroviral Altamente Activa/métodos , Biomarcadores/sangre , Recuento de Linfocito CD4 , Linfocitos T CD4-Positivos/inmunología , Progresión de la Enfermedad , Femenino , Infecciones por VIH/diagnóstico , Seropositividad para VIH/tratamiento farmacológico , Seropositividad para VIH/inmunología , VIH-1/inmunología , Humanos , Interferón gamma/sangre , Interleucina-2/sangre , Estudios Longitudinales , Masculino , Valor Predictivo de las Pruebas , Rwanda , Sensibilidad y Especificidad , Resultado del Tratamiento
9.
East Afr. Med. J ; 91(8): 261-266, 2014.
Artículo en Inglés | AIM (África) | ID: biblio-1261373

RESUMEN

Background: Interleukin-10; IL-2 and IFN -? are some of the crucial cytokines associated with HIV infection and pathogenesis. While IL-2 and IFN-? play critical roles in host resistance to infection; IL-10 inhibits the synthesis IFN-?; 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-? 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-? 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-?. 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


Asunto(s)
Seropositividad para VIH/inmunología
10.
East Afr Med J ; 90(4): 124-9, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26866096

RESUMEN

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.


Asunto(s)
Transfusión Sanguínea , Eritrocitos/inmunología , Isoanticuerpos/sangre , Adulto , Tipificación y Pruebas Cruzadas Sanguíneas/métodos , Transfusión Sanguínea/métodos , Estudios Transversales , Femenino , Hospitales de Distrito/estadística & datos numéricos , Humanos , Pruebas Inmunológicas/métodos , Masculino , Prevalencia , Medición de Riesgo , Factores de Riesgo , Rwanda/epidemiología , Reacción a la Transfusión
11.
Rwanda med. j. (Online) ; 70(1): 15-18, 2013.
Artículo en Inglés | AIM (África) | ID: biblio-1269594

RESUMEN

Introduction: A great concern exists about the emergence of antibiotic resistant organisms. The goal of this study is to delineate antibiotic sensitivity patterns at King Faisal Hospital. Methods: A three years study; from Jan 2009 to Dec 2011 was conducted in the Microbiology unit; department of Laboratory; King Faisal hospital; Rwanda. All the specimens and antibiotic sensitivity were processed according to the standard guidelines. Microorganisms and their sensitivity data were reviewed and compiled by using hospital information system. Results: Over the 3-year period; several Enterobacteriaceae pathogens declined in susceptibility to various antimicrobial agents. A total of 2153 Enterobacteriaceae were isolated. Most common isolate was Escherichia coli check for this species in other resources (1413) followed by Klebsiella check for this species in other resources species (550); Enterobacter check for this species in other resources species (110); Proteus check for this species in other resources species (165); Citrobacter check for this species in other resources Species (79); Shigella check for this species in other resources species (110) and other species. Most notable were the decreased sensitivities to cefuroxime: E. coli (84 to 72); Klebsiella (78 to 33); Enterobacter (50 to 41) Proteus(67 to 59) and Shigella to ciprofloxacin (100 to 96). And also decreased sensitivities to Imipenem: E. coli (100 to 98) and Klebsiella species (100 to 94). Conclusion: These decreased antibiotic sensitivities reflect increased bacterial selection pressure as a result of widespread antibiotic use. A combined approach involving infection-control specialists; infectious disease physicians; and hospital administrators is necessary to address this increasingly difficult problem


Asunto(s)
Niño , Esputo/diagnóstico , Tuberculosis
12.
Rwanda med. j. (Online) ; 71(3): 14-18, 2013.
Artículo en Inglés | AIM (África) | ID: biblio-1269607

RESUMEN

"""According to the World Health Statistics 2008; about 260 000 neonatal deaths worldwide are caused by Congenital anomalies. This fiure represents about 7 of all neonatal deaths"". In our study; birth accounted Defects for 14.9 out of 581 recruited infants with birth defects (87 cases). In this series; 52.9 were Female whereas 47.1 were male.13.8 were premature babies (=37weeks); 74.7 aged 5 months and 11.5 were infants aged between 5 and 12 months. Polymalformative conditions were the most common Cause of death identifid in 21 cases (24); gastrointestinal birth defects caused death in 15 cases (17); nervous system in 14 (16); Cardio-vascular birth defects in 10 cases (12); Chromosomal abnormalities In 10 cases (12); musculoskeletal defects in 10 cases (12); congenital mass in 2 cases (2); oral defects in 2 cases (2); congenital skin defect in 1 case(1); whereas congenital respiratory defect and genitourinary malformations in 1 case each (1).Over 50 patients died in referral hospitals and 77 died after 24 hours of life"


Asunto(s)
Anomalías Congénitas/etiología , Anomalías Congénitas/mortalidad , Anomalías Congénitas/prevención & control , Lactante , Recién Nacido
13.
Rwanda med. j. (Online) ; 71(3): 5-11, 2013.
Artículo en Inglés | AIM (África) | ID: biblio-1269611

RESUMEN

"The increasing access to antiretroviral therapy (ART) and survival of HIV-infected children has raised challenges on disclosing HIV diagnosis to children. Many parents and guardians are reluctant to allow children living with HIV to know their status; arguing that they are too young and will not understand fully their circumstances causing emotional disturbances as a result. There are further concerns that children may blame their parents and ask questions on how they got the disease; even inadvertently ""blurting out the secret"" and thus exposing the family to stigma and discrimination. In this cross-sectional study; eligible children were recruited to participate. Data on these children was obtained from the electronic databases and completed with data extraction from the individual patient fie. A sample of both parents and guardians who disclosed and those who did not disclose have been interviewed to identify the factors and reasons behind their decision-making process in addition to what they believe would improve their disclosure. A total of 64of HIV positive (HIV+) children had their status disclosed to them by parents while 35.8 did not. The majority of parents or guardians (80) found that disclosing status improved adherence. A large number of parents or guardians (67) attended psychosocial support groups and accordingly disclosure status was highly associated with psychosocial support group attendance (p0.05). Disclosure and statistical tests showed that disclosure status was highly associated with CD4 outcomes (p0.05). In addition; disclosure status was highly associated with viral load outcome (p0.05). Moreover; 64.4 of children living with HIV underwent an increase of weight greater or equal 4 kg after disclosure and statistically disclosure status was highly associated with weight outcomes (p0.05)."


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Niño , Revelación , Infecciones por VIH/diagnóstico , Padres
14.
Rwanda med. j. (Online) ; 69(3): 34-42, 2012.
Artículo en Inglés | AIM (África) | ID: biblio-1269581

RESUMEN

Background: Management of Infective Endocarditis (IE) has been of great challenge for many years. Rapid diagnosis; effective treatment; and prompt recognition of complications are essential to good patient outcome as this condition is associated with a high morbidity and mortality in both adults and pediatric patients. In limited resources settings; management of IE is still a challenge due to early inappropriate antibiotherapy and therefore difficulties in its diagnosis and treatment. Objectives: To elicit challenges in management of patients suspected of IE at tertiary level in Rwanda. Methods: We report four patients with IE. For these patients; Duke's criteria were considered in making the diagnosis. Results and Conclusion: IE has protean clinical symptoms and signs; and can be of challenging diagnosis. The patients reported constituted a clinical challenge in the diagnosis and management of IE but most of them had had favorable outcome. The main clinical challenge was the prolonged stay to peripheral settings with inappropriate antibiotherapy which made most of the blood cultures falsely negative. Echocardiography and serial blood cultures provide the key to diagnosis as per Dukes criteria. Being alert to this mentioned challenge is crucial. As the key investigations are not steadily available in most peripheral health facilities; we strongly recommend early referral to tertiary level for all cases of suspected IE before initiation of antibiotherapy


Asunto(s)
Endocarditis , Endocarditis/mortalidad , Pediatría , Staphylococcus aureus
15.
Rwanda med. j. (Online) ; 69(3): 43-46, 2012.
Artículo en Inglés | AIM (África) | ID: biblio-1269582

RESUMEN

Multiple Osteochondromas (MO) or hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder mainly characterized by multiple osteochondromas predominantly located at the growth plates of long bones. MO is a genetically heterogeneous disorder and results from mutations in EXT1 and EXT2 genes located on chromosome 8q23-q24 and 11p11-p12. We hereby report a case of a 23-year-old girl who presented characteristic clinical and radiological features of MO. The same clinical signs were observed in her relatives. The p.Arg340Cys mutation in the EXT1 gene was found in the proband confirming the clinical diagnosis. A surgical management was carried out in all affected bones which consisted of excision of the bigger and pain full osteochondromas. The patient was informed of her problem and genetic counseling was offered to the family's members


Asunto(s)
Manejo de la Enfermedad , Exostosis , Exostosis/genética , Pacientes
16.
Rwanda med. j. (Online) ; 69(4): 27-29, 2012.
Artículo en Inglés | AIM (África) | ID: biblio-1269589

RESUMEN

Down syndrome is the most common chromosomal abnormality in humans with an estimated incidence of one case in 770 live births. However; the occurrence of double aneuploidy involving autosome and or sex chromosome is a very rare phenomenon in lives born and the majority of reported cases are presented in form of spontaneous abortions. Here; we are reporting a case of a Rwandan patient with combination of trisomy 21 and triple X syndrome. The proband was 8-month-old female with typical features of Down syndrome. In additional to Down syndrome features; the child presented with minor features of triple X syndrome characterized by hypotonia and seizures


Asunto(s)
Aborto , Aneuploidia , Anomalías Congénitas , Síndrome de Down , Lactante
17.
Genet Couns ; 20(1): 9-17, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19400538

RESUMEN

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.


Asunto(s)
Enanismo/genética , Proteínas de Homeodominio/genética , Osteocondrodisplasias/genética , Eliminación de Secuencia , Adolescente , Adulto , Consanguinidad , Epilepsia/genética , Salud de la Familia , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Linaje , Proteína de la Caja Homeótica de Baja Estatura , Síndrome
18.
Genet Couns ; 18(2): 201-7, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17710872

RESUMEN

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.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 18/genética , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Monosomía/genética , Pubertad Precoz/genética , Trisomía/genética , Anomalías Múltiples/diagnóstico , Niño , Preescolar , Anomalías Craneofaciales/diagnóstico , Discapacidades del Desarrollo/diagnóstico , Facies , Femenino , Estudios de Seguimiento , Tamización de Portadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Translocación Genética/genética
19.
Rev Med Liege ; 62(3): 155-8, 2007 Mar.
Artículo en Francés | MEDLINE | ID: mdl-17511383

RESUMEN

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.


Asunto(s)
Lamina Tipo A/genética , Mutación , Progeria/genética , África , Envejecimiento/genética , Niño , Cromatografía Liquida , Exones , Femenino , Glicina , Humanos , Linaje , Reacción en Cadena de la Polimerasa , Progeria/diagnóstico
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