Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.

Knowledge, attitudes and practices regarding HIV/AIDS among senior high school students in Sekondi-Takoradi metropolis, Ghana.

BACKGROUND: In Ghana, youths aged 15-24 years constitute the group most vulnerable to HIV infection. Inadequate knowledge, negative attitudes and risky practices are major hindrances to preventing the spread of HIV. AIM: This study sought to investigate the knowledge, attitudes and practices regarding HIV/AIDS among senior high school (SHS) students. SETTING: Sekondi-Takoradi metropolis, Ghana. METHODS: A descriptive, cross-sectional design was adopted, using a validated self-administered questionnaire, to collect data from a stratified sample of 294 senior students selected from three participating high schools in August 2017. The data collected were analysed using Stata version 12. Descriptive and inferential statistics were at a significance level of 0.05. RESULTS: Among the participants, 61.6% had good knowledge about HIV/AIDS, 172 (58.5%) showed positive attitudes towards people living with HIV (PLHIV) and 79.1% reported HIV-related risky practices. We found a significant association between age and attitudes (p < 0.05). Poor knowledge was associated with being Muslim (aOR = 1.51 and 1.93; CI 1.19-1.91; p = 0.00) and being a student from school 'F' senior high school (F SHS) (aOR = 1.93; CI 1.71-2.18; p = 0.00). Bad attitude towards PLHIV and HIV was associated with ages 15-19 years (aOR = 3.20[2.58-3.96]; p = 0.03) p confirmed; and single marital status (aOR = 1.79[1.44-2.23]; p = 0.00). Bad practices were associated with ages 15-19 years (aOR = 1.72[1.41-2.11]; p = 0.08), belonging to the Akans ethnic group (aOR = 1.57[1.26-1.97]; p = 0.00) or being single (aOR = 1.79[1.44-2.23]; p = 0.00). Associations between misconceptions and HIV transmission were found: HIV can be transmitted by a handshake (aOR = 3.45[2.34-5.68]; p = 0.000), HIV can be cured (aOR = 2.01[2.12-5.04]; p = 0.004) and HIV/AIDS can be transmitted by witchcraft (aOR = 3.12[3.21-7.26]; p = 0.001). CONCLUSION: Participants generally had inadequate knowledge regarding HIV/AIDS, manifested negative attitudes towards PLHIV and also engaged in risky practices that might predispose them to HIV transmission. Our findings underscore the need for culturally adapted and age-oriented basic HIV information for youths in the metropolis on misconceptions about HIV transmission, negative attitudes of students towards PLHIV as well as the risky practices of students regarding HIV.

Knowledge, attitudes and practices regarding HIV/AIDS among senior high school students in Sekondi-Takoradi metropolis, Ghana

Background: In Ghana, youths aged 15­24 years constitute the group most vulnerable to HIV infection. Inadequate knowledge, negative attitudes and risky practices are major hindrances to preventing the spread of HIV. Aim: This study sought to investigate the knowledge, attitudes and practices regarding HIV/AIDS among senior high school (SHS) students. Setting: Sekondi-Takoradi metropolis, Ghana. Methods: A descriptive, cross-sectional design was adopted, using a validated self-administered questionnaire, to collect data from a stratified sample of 294 senior students selected from three participating high schools in August 2017. The data collected were analysed using Stata version 12. Descriptive and inferential statistics were at a significance level of 0.05. Results: Among the participants, 61.6% had good knowledge about HIV/AIDS, 172 (58.5%) showed positive attitudes towards people living with HIV (PLHIV) and 79.1% reported HIV-related risky practices. We found a significant association between age and attitudes (p < 0.05). Poor knowledge was associated with being Muslim (aOR = 1.51 and 1.93; CI 1.19­1.91; p =0.00) and being a student from school 'F' senior high school (F SHS) (aOR = 1.93; CI 1.71­2.18; p = 0.00). Bad attitude towards PLHIV and HIV was associated with ages 15­19 years (aOR = 3.20[2.58­3.96]; p=0.03) p confirmed; and single marital status (aOR = 1.79[1.44­2.23]; p = 0.00). Bad practices were associated with ages 15­19 years (aOR = 1.72[1.41­2.11]; p = 0.08), belonging to the Akans ethnic group (aOR = 1.57[1.26­1.97]; p = 0.00) or being single (aOR = 1.79[1.44­2.23]; p = 0.00). Associations between misconceptions and HIV transmission were found: HIV can be transmitted by a handshake (aOR = 3.45[2.34­5.68]; p = 0.000), HIV can be cured (aOR = 2.01[2.12­5.04]; p=0.004) and HIV/AIDS can be transmitted by witchcraft (aOR = 3.12[3.21­7.26]; p = 0.001). Conclusion: Participants generally had inadequate knowledge regarding HIV/AIDS, manifested negative attitudes towards PLHIV and also engaged in risky practices that might predispose them to HIV transmission. Our findings underscore the need for culturally adapted and age-oriented basic HIV information for youths in the metropolis on misconceptions about HIV transmission, negative attitudes of students towards PLHIV as well as the risky practices of students regarding HIV

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

PURPOSE: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi. METHOD: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted. From a total of 172 cases, 162 non-syndromic cases were recruited. For each case, one clinically normal newborn control was selected. RESULTS: NSCLP had an incidence of 1/1258 live births (0.8/1000). We found significant associations with a family history of cleft lip and palate (CLP) (x2family history = 11.5, p = 0.0007), maternal alcohol intake (OR = 19.3, 95% CI: 1.9-197.1), paternal alcohol during the periconceptional period and the first trimester of pregnancy (OR = 18.7, 95% CI: 3.9-89.2), maternal educational level lower than high school (OR = 9.5, 95% CI: 2.0-44.7), clay (Pemba) consumption during pregnancy (OR = 38.3, 95% CI: 9.3-157.0), the use of insecticides in the evening (OR = 130.3, 95% CI: 13.2-1286.9), indoor cooking with charcoal (Makala) (OR = 6.5, 95% CI: 1.22-34.5), and regular consumption of Kapolowe fish, supposedly contaminated with heavy metals (OR = 29.5, 95% CI: 7.4-116.7). CONCLUSION: Several environmental risk factors highly prevalent in Central Africa for facial clefting were found.

Rendimiento de la tomografía computarizada en la estadificación basal del paciente con melanoma / Yield of Computed Tomography at Baseline Staging of Melanoma

INTRODUCCIÓN: Las recomendaciones actuales de pruebas de imagen en la estadificación basal del paciente con melanoma cutáneo primario se limitan a los estadios tumorales de riesgo elevado (T4b). OBJETIVO: Evaluar la frecuencia y el rendimiento de la tomografía computarizada (TC) para la estadificación basal del paciente con melanoma cutáneo primario y la tipología y la frecuencia de los incidentalomas identificados. MATERIAL Y MÉTODOS: Estudio transversal sobre pacientes con melanoma cutáneo de estadio Tis-T4bN0M0 atendidos entre 2008 y 2014 en una Unidad de Melanoma. Se revisaron las TC realizadas como parte del estudio de estadificación basal para obtener la frecuencia de TC positiva, incidentalomas, coste unitario de la detección de metástasis y factores asociados a la realización de TC. RESULTADOS: Sobre un total de 419 pacientes incluidos se realizó TC basal en el 73,99% de los pacientes (n=310TC. Tis=17, T1=137, T2=71, T3=48, T4=37), de las que el 81,61% fueron negativas y el 18,06% presentaron incidentalomas. En 2 pacientes (0,64%) se identificaron segundas neoplasias primarias y en un paciente, metástasis de melanoma (0,32%). El coste asociado a la identificación de metástasis fue de 71.234,90 €/metástasis. El estadio T2 (OR = 8,73) y la edad < 70 años (OR = 3,53) se asociaron con mayor probabilidad de solicitud de TC; la exéresis del tumor primario en la Unidad de Melanoma (OR=0,08) se asoció con menor probabilidad de solicitud de TC. CONCLUSIONES: Los resultados obtenidos en esta serie confirman las recomendaciones actuales que restringen la indicación de la TC de estadificación basal a los escenarios de alto riesgo de enfermedad metastásica (estadiosIIC-III)

BACKGROUND: Current guidelines call for baseline imaging only for very high-risk (T4b) primary cutaneous melanomas. OBJECTIVES: To estimate the frequency of computed tomography (CT) at baseline staging of primary cutaneous melanoma and the diagnostic yield of CT; and to describe the types and frequencies of incidentaloma findings. MATERIAL AND METHODS: Cross-sectional study of cutaneous melanoma cases (tumor classifications Tis to T4bN0M0) attended between 2008 and 2014 in a specialized melanoma unit. Reports of CT scans performed during baseline staging were reviewed to determine the frequency of positive scan results, incidentaloma findings, unit cost for detection of metastasis, and factors associated with the decision to order CT. RESULTS: CT results were available for 310 of the 419 patients included (73.99%). The tumor classifications were as follows: Tis, 17; T1, 137; T2, 71; T3, 48; and T4, 37. The CT results were negative in 81.61%, and incidentalomas were found in 18.06%. Additional primary tumors were found in 2 patients (0.64%), and metastasis was identified in one patient (0.32%). The cost of finding the case of metastasis was €71,234.90. A T2 tumor classification (odds ratio [OR], 8.73) and age under 70 years (OR, 3.53) were associated with greater likelihood of CT being ordered. Excision of the primary tumor in the melanoma unit (OR, 0.08) was associated with less likelihood of ordering CT. CONCLUSIONS: The results for this patient series support current recommendations restricting CT at baseline to cases where there is high risk of metastasis (stagesIIC-III)

[Validation of an evaluation questionnaire for COPD acute exacerbations (Exascore)]. / Validation d'un questionnaire d'évaluation de l'exacerbation dans la BPCO : l'Exascore.

BACKGROUND: Early identification of acute exacerbations of COPD facilitates better care. This study was designed to validate a short questionnaire (Exascore) developed to help patients, relatives and carers to diagnose acute exacerbations. METHOD: We first addressed content validity that allowed the elaboration of two questionnaires, one assessing the current status and the other stable status (transition). The second step tested their construction validity, reproducibility and concomitant validity among 126 COPD patients aged 64.4±9.9 years. They included 56 presenting with an exacerbation and 70 in stable state, of whom 57 completed the questionnaire a second time after 7 days. The diagnosis of exacerbation and assessment of severity (gold standard) were established by the treating respiratory physician and confirmed by two independent experts. RESULTS: Factorial analyses established a "current status" questionnaire comprising 8 items and 2 dimensions. Cronbach's alpha coefficients were satisfactory, 0.867 for "respiratory impact", 0.886 for "psychosocial impact" and 0.886 for the total score. Concomitant validity and reproducibility were also adequate. The transition questionnaire did not obtain convincing psychometric results. CONCLUSIONS: The "current status" Exascore questionnaire satisfies psychometric quality criteria while being usable in clinical practice. It helps in diagnosing acute exacerbations and assessing their intensity. Further studies will need to test the adequacy of proposed thresholds, the factorial structure of the score in healthcare professionals and patients' relatives, and its predictive power.

Yield of Computed Tomography at Baseline Staging of Melanoma.

BACKGROUND: Current guidelines call for baseline imaging only for very high-risk (T4b) primary cutaneous melanomas. OBJECTIVES: To estimate the frequency of computed tomography (CT) at baseline staging of primary cutaneous melanoma and the diagnostic yield of CT; and to describe the types and frequencies of incidentaloma findings. MATERIAL AND METHODS: Cross-sectional study of cutaneous melanoma cases (tumor classifications Tis to T4bN0M0) attended between 2008 and 2014 in a specialized melanoma unit. Reports of CT scans performed during baseline staging were reviewed to determine the frequency of positive scan results, incidentaloma findings, unit cost for detection of metastasis, and factors associated with the decision to order CT. RESULTS: CT results were available for 310 of the 419 patients included (73.99%). The tumor classifications were as follows: Tis, 17; T1, 137; T2, 71; T3, 48; and T4, 37. The CT results were negative in 81.61%, and incidentalomas were found in 18.06%. Additional primary tumors were found in 2 patients (0.64%), and metastasis was identified in one patient (0.32%). The cost of finding the case of metastasis was €71,234.90. A T2 tumor classification (odds ratio [OR], 8.73) and age under 70 years (OR, 3.53) were associated with greater likelihood of CT being ordered. Excision of the primary tumor in the melanoma unit (OR, 0.08) was associated with less likelihood of ordering CT. CONCLUSIONS: The results for this patient series support current recommendations restricting CT at baseline to cases where there is high risk of metastasis (stagesiiC-iii).

Hydrogeological conditions of a crystalline aquifer: simulation of optimal abstraction rates under scenarios of reduced recharge.

A steady state numerical groundwater flow model has been calibrated to characterize the spatial distribution of a key hydraulic parameter in a crystalline aquifer in southwestern Ghana. This was to provide an initial basis for characterizing the hydrogeology of the terrain with a view to assisting in the large scale development of groundwater resources for various uses. The results suggest that the structural entities that control groundwater occurrence in the area are quite heterogeneous in their nature and orientation, ascribing hydraulic conductivity values in the range of 4.5 m/d to over 70 m/d to the simulated aquifer. Aquifer heterogeneities, coupled possibly with topographical trends, have led to the development of five prominent groundwater flowpaths in the area. Estimated groundwater recharge at calibration ranges between 0.25% and 9.13% of the total annual rainfall and appears to hold significant promise for large-scale groundwater development to support irrigation schemes. However, the model suggests that with reduced recharge by up to 30% of the current rates, the system can only sustain increased groundwater abstraction by up to 150% of the current abstraction rates. Prudent management of the resource will require a much more detailed hydrogeological study that identifies all the aquifers in the basin for the assessment of sustainable basin yield.

Psychosocial implications of tubal ligation in a rural health district: a phenomenological study.

BACKGROUND: Tubal ligation is the most popular family planning method worldwide. While its benefits, such as effectiveness in protecting against pregnancies, minimal need for long-term follow-up and low side-effects profile are well documented, it has many reported complications. However, to date, these complications have not been described by residents in Congo. Therefore, the study aimed at exploring the experience of women who had undergone tubal ligation, focusing on perceptions of physical, psychological and contextual experiences of participants. METHODS: This qualitative study used a semi-structured questionnaire in a phenomenological paradigm to collect data. Fifteen participants were purposefully selected among sterilized women who had a ligation procedure performed, were aged between 30 and 40 years, and were living within the catchment area of the district hospital. Data were collected by two registered nurses, tape-recorded, and transcribed verbatim. Reading and re-reading cut and paste techniques, and integration were used to establish codes, categories, themes, and description. RESULTS: Diverse and sometimes opposite changes in somatic symptoms, psychological symptoms, productivity, ecological relationships, doctor-client relationships, ethical issues, and change of life style were the major problem domains. CONCLUSIONS: Clients reported conflicting experiences in several areas of their lives after tubal sterilization. Management, including awareness of the particular features of the client, is needed to decrease the likelihood of psychosocial morbidity and/or to select clients in need of sterilization.

Morbidity profile in a rural community-based rehabilitation programme in Butembo, North Kivu Province, Congo

Background: Medicine in low socio-economic countries is primarily disease-oriented; prevention and rehabilitative care are secondary concerns. Hence, curative care erodes the few resources allocated to health. Despite the well-documented benefits of community-rehabilitation in the management of chronic conditions, little is known about common conditions present in the community in Butembo. Objectives: The objective of this study was to determine the conditions encountered during rehabilitation in Butembo and to identify the trends of the five most common conditions during the study period. Method: Data were extracted from a rehabilitation programme connect to one centre in Butembo. A descriptive retrospective medical study was performed for the period between 2004 and 2007. Descriptive statistics with percentages were computed. The Chi-square test was used to evaluate the differences with a probability of 5%. Results: Cerebral palsy (46.9%), cataract (17.3%), clubfoot (11.8%), glaucoma (6.8%), and cleft lip (4.5%) were the most commonly encountered conditions, with cerebral palsy the most common condition throughout the study period. With regard to gender, male patients were significantly more affected by cataracts (p = 0.0290), clubfoot (p < 0.0100) and glaucoma (p < 0.0100) than female patients. Children aged five or younger had a higher incidence of cerebral palsy (χ2 = 263.2, df= 1, p = 0.0000) cataract (p = 0.0170), clubfoot (p < 0.0010), and glaucoma (p = 0.0010). Additionally, the overall comparisons by gender and age demonstrated differences for the five most common conditions (χ2 = 15.3, df = 4, and p = 0.0040; and χ2 = 114, df = 4, and p < 0.0001 for gender and age, respectively). Conclusion: Common conditions and associated factors were identified that will add to the effectiveness of the programme in terms of materials needed, staff skills, and programming. Special skills are still needed to help treat some acute conditions that can be handled at the rehabilitation centre, and a triage of attending rehabilitation centres could improve the effectiveness of the programme and lower the possibility of missed opportunities for acute stage patients

[Factors associated with malnutrition in children aged under five years in Lubumbashi (DRC)]. / Facteurs prédictifs de la malnutrition chez les enfants âgés de moins de cinq ans à Lubumbashi (RDC).

Nutritional status of children is a global indicator of children's well-being and, indirectly, of the community's well-being. The first objective of this work is to assess the nutritional status of children under five years-old living in a suburb of the city of Lubumbashi, DR Congo, at the end of the 1998-2003 armed conflict. The second objective aims to identify some predictors of malnutrition. A multivariate logistic regression was applied to the results of a cross-sectional survey of 1963 children from selected households. In addition to the anthropometric variables, living conditions were also used. We observed 33.5% stunted growth and 3.8% emaciation. After logistic regression, a low maternal educational level (less than 7 years), the absence of a drinking water tap available in the house or yard, male gender, and age of children ( > 11 months) were all significantly associated with increased risk of stunted growth. Moreover, decreased appetite, diarrhea and age of children ( < 12 months) were significant predictors of emaciation. Compared to the classification of the World Health Organization, our results indicate that the prevalence of stunting is high and the prevalence of emaciation is low. Interventions against malnutrition should consider the various predictors discussed in this study in order to reduce mortality and morbidity in children and contribute to their well-being.

[Hyperventilation syndrome: evaluation of voluntary hypoventilation programs in two rehabilitation centers]. / Syndrome d'hyperventilation.

PURPOSE: The effectiveness of a voluntary hypoventilation technique was assessed in two rehabilitation centers in patients with hyperventilation syndrome. METHODS: In the first center, 55 patients participated in an open program determining themselves the frequency and number of their consultations. In the second center 158 patients participated in a 10-week program that imposed five 60-min sessions. RESULTS: In the first center, the patients participated in 4.8 30-min sessions over a 6.1 week period. Their cardinal complaints had declined by 48% (range 14% to 67% depending on the type of complaint) at the end of the program. In the second center the patients experienced an improvement in their comfort of life (less sleep disorders, fatigability, symptoms of severe hypocapnia), increasingly so with each new session, those having completed the program reaching a 62% improvement. DISCUSSION: Due to the strong correlation observed between the clinical improvement (with a longer interval between acute episodes) and the quality of patient participation the beneficial effect of these voluntary hypoventilation rehabilitation programs cannot be attributed solely to the psychological effect of patient care.

Serum beta-carotene deficiency in HIV-infected children.

Representative levels of serum micronutrients specifically, beta-carotene and vitamins A and E, were studied in symptomatic human immunodeficiency virus (HIV)-infected children. The nutritional status of 23 symptomatic African-American and Hispanic HIV-infected children were compared with an appropriate control group comprised of 36 uninfected children matched for age and sex, using body mass index. Serum beta-carotene and vitamin A and E levels were randomly determined on 15 of the infected children. Beta-carotene concentration was 4.9-fold reduced in symptomatic HIV-infected children when compared with the control group. There was a 6.5-fold decrease in the serum level for children without acquired immunodeficiency syndrome (AIDS) and a 13-fold reduction in children with AIDS. No differences in the mean values for serum vitamins A and E were observed in the groups studied. Although the nutritional status of the symptomatic HIV-infected children was not different from that of the control population, their serum beta-carotene levels were profoundly deficient. This finding may have immunologic and clinical implications for children with rapidly progressing HIV disease.

Clinical significance of resolution of chest X-ray findings in HIV-infected children with lymphocytic interstitial pneumonitis (LIP).

Lymphocytic interstitial pneumonitis (LIP) in HIV-infected children is generally associated with better prognosis as compared with children with Pneumocystis carinii pneumonia (PCP). We prospectively studied 12 cases of HIV-infected children with LIP over a 4-year period in an effort to document one aspect of the natural history of this clinical entity. Severe CD4 lymphocytopenia was associated with complete resolution of the chest X-ray findings in five patients, one of whom died of disseminated Mycobacterium avium complex. A second patient developed rapid-onset subacute HIV encephalopathy at the time when the CD4-lymphocyte count declined from 589 to 39, and the lung findings resolved spontaneously. The resolution of the lung pathology may be the first indication of severe immune suppression and a warning of the increased risk for opportunistic infections. Therefore, in those settings where diagnostic laboratory facilities are not easily available, the resolution of the reticulonodular changes on chest radiographs is a poor prognostic sign in HIV-infected children with LIP.

[Acute rhabdomyolysis. A study of 44 cases]. / Rabdomiolisis aguda. Estudio de 44 casos.

Fourty four patients suffering non traumatic rhabdomyolysis (RM) are studied. The most frequently encountered etiologies were neurologic abnormalities in 26 patients, followed by infections in 7 patients and metabolic abnormalities in four cases. Eleven patients (25%) presented several associated factors. The clinical manifestations of RM were not very significant, with only 18% of patients presenting muscle pain, 38.6% proteinuria and 36.4% hematuria. A significant increase in K, CPK, LDH, and ASAT values was observed after the RM episode (p less than 0.05). Those patients with an infectious RM were older (p less than 0.05) and presented higher urea (p less than 0.01) and creatinine (p less than 0.05) values. Only two patients presented renal failure. One patient with septic shock died. RM is a relatively common condition, often secondary to multiple systemic processes, which can go unnoticed due to the underlying disease.