A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE.

Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435C>T p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM.

A novel mutation in the FRAS1 gene in a patient with Fraser syndrome.

Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.

A fertile patient with 45X/47XXX mosaicism.

Turner syndrome (TS) is a sex chromosome abnormality with a frequency of 1/2,000-3,000 among female live births. Characteristic findings are short stature and gonadal dysgenesis. Short and webbed neck, low posterior hairline, broad chest, widespread nipples, cubitus valgus, short 4th and 5th metacarpals, multiple pigmented nevi, primary amenorrhea, lack of secondary sexual characteristics, cardiovascular and renal anomalies are the most common presentations. Most of the cases are infertile. Spontaneous pregnancy is unusual and the risk for congenital anomaly, spontaneous abortion, stillbirth and aneuploidy is increased. Fifty percent of the patients have classical monosomy X (45,X). However mosaicism of 45,X/47,XXX is rare and accounts for 1.7% of the TS cases. Some cases may not reflect the characteristic phenotype. Some cases with normal height, normal menstrual cyclus and fertility have been defined before. The case we present herein is a 26 years old woman who was admitted to our clinic due to recurrent pregnancy loss. In her medical history she had type 1 diabetes mellitus and endometrium cancer, in her family history her mother had recurrent pregnancy loss. The patient's first, third, fourth, fifth and sixth pregnancies had resulted in spontaneous abortions in the first trimester. She had a healthy daughter with 46,XX karyotype from her second pregnancy. A 45,X[8]/47,XXX[12] karyotype was detected by conventional cytogenetic analysis of the patient who did not have dysmorphic findings. The mosaicism was confirmed by FISH analysis with CEP X probe. Of the 100 cells evaluated, 65 of them had 3 signals of X chromosome while 35 had 1 signal. We present the case because of its scarcity in the literature.

Comparison of pulsed-field gel electrophoresis and enterobacterial repetitive intergenic consensus PCR and biochemical tests to characterize Lactococcus garvieae.

Biochemical test, pulsed-field gel electrophoresis (PFGE) and enterobacterial repetitive intergenic consensus sequence PCR (ERIC-PCR) were used to compare 42 strains of Lactococcus garvieae isolated from different regions of Turkey, Italy, France and Spain. Twenty biotypes of L. garvieae were formed based on 54 biochemical tests. ERIC-PCR of genomic DNA from different L. garvieae strains resulted in amplification of multiple fragments of DNA in sizes ranging between 200 and 5000 bp with various band intensities. After cutting DNA with ApaI restriction enzyme and running on the PFGE, 11­22 resolvable bands ranging from 2 to 194 kb were observed. Turkish isolates were grouped into two clusters, and only A58 (Italy) strain was connected with Turkish isolates. Similarities between Turkish, Spanish, Italian and French isolates were <50% except 216-6 Rize strain. In Turkey, first lactococcosis occurred in Mugla, and then, it has been spread all over the country. Based on ERIC-PCR, Spanish and Italian strains of L. garvieae were related to Mugla strains. Therefore, after comparing PFGE profiles, ERIC-PCR profiles and phenotypic characteristics of 42 strains of L. garvieae, there were no relationships found between these three typing methods. PFGE method was more discriminative than the other methods.

De novo partial trisomy distal 4q: a case report.

We present a case of de novo distal partial trisomy 4q with firstly described chronic cholecystitis, rarely seen hypothyroidism, and bilateral membranous choanal atresia. The patient, a 10-month-old baby girl had dysmorphic facial features as well as neuromotor retardation, congenital hypothyroidism, atrial septal defect (ASD), white matter atrophy in cranial MRI, grade 2 dilatation in pelvicalyceal system of the left kidney, and bilateral ureteral reflux. In peripheral blood chromosome analysis 46, XX, dup(4) (q21q35) karyotype was detected. In FISH analysis using 4p/4q subtelomeric probe; 3 signals for 4 q region and 2 signals for 4p region were observed. In chromosome analyses of her healthy parents, no anomaly was detected. Herein we present a case of de novo partial distal trisomy 4q syndrome to contribute to the literature since it is rarely seen and this is the first patient with partial trisomy distal 4q syndrome presented with chronic cholecystitis and the second patient with hypothyroidism.

Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient / Otro cromosoma marcador supernumerario pequeño derivado del cromosoma 9 en un paciente con el síndrome de Klinefelter

Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.

Los cromosomas marcadores son muy raros en los pacientes de Klinefelter, y los hallazgos fenotípicos se relacionan con la región cromosomática afectada. Los efectos fenotípicos de los cromosomas marcadores supernumerarios pequeños (sSMC) van desde el retraso mental y las malformaciones múltiples hasta la ausencia total de efectos (es decir, un fenotipo normal). Este amplio espectro de fenotipos se debe al origen, estructura y contenido del gen del cromosoma marcador. El primer caso de síntoma Klinefelter con sSMC 9 fue publicado por Liehr et al en 2005. El caso presente fue remitido para análisis cromosomático debido a rasgos dismórficos, retraso del habla, y retardo mental ligero. El análisis citogenético convencional reveló el cariotipo 47 XXY en 17 metafases y el cariotipo marcador 48 XXY+ en ocho metafases. El análisis mediante hibridación fluorescente in situ (FISH) para identificar el cromosoma marcador se realizó usando la sonda LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe). Un mosaicismo de trisomía 9 parcial fue confirmado en este paciente. Hasta donde sabemos, éste es el segundo caso de síndrome de Klinefelter con un cromosoma marcador supernumerario pequeño derivado del cromosoma 9.

A prospective, multi-center study: factors related to the management of diabetic foot infections.

The Turkish Association of Clinical Microbiology and Infectious Diseases, Diabetic Foot Infections Working Group conducted a prospective study to determine the factors affecting the outcomes of diabetic foot infections. A total of 96 patients were enrolled in the study. Microbiological assessment was performed in 86 patients. A total of 115 causative bacteria were isolated from 71 patients. The most frequently isolated bacterial species was Pseudomonas aeruginosa (n = 21, 18.3%). Among cases with bacterial growth, 37 patients (43%) were infected with 38 (33%) antibiotic-resistant bacteria. The mean (±SD) antibiotics cost was 2,220.42 (±994.59) USD in cases infected with resistant bacteria, while it was 1,206.60 (±1,160.6) USD in patients infected with susceptible bacteria (p < 0.001). According to the logistic regression analysis, the risk factors related to the growth of resistant bacteria were previous amputation (p = 0.018, OR = 7.229) and antibiotics administration within the last 30 days (p = 0.032, OR = 3.796); that related to the development of osteomyelitis was wound size >4.5 cm(2) (p = 0.041, OR = 2.8); and that related to the failure of the treatment was the growth of resistant bacteria (p = 0.016, OR = 5.333). Diabetic foot osteomyelitis is usually a chronic infection and requires surgical therapy. Amputation is the accepted form of treatment for osteomyelitis. Limited limb-saving surgery and prolonged antibiotic therapy directed toward the definitive causative bacteria are most appropriate. This may decrease limb loss through amputations. As a result the infections caused by resistant bacteria may lead to a high cost of antibiotherapy, prolonged hospitalization duration, and failure of the treatment.

Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient.

Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.

[Investigation of epidemiology of neurotrauma in the Republic of Guinea].

The paper focuses on analysis of incidence of neurotrauma in economically underdeveloped country such as Republic of Guinea. It is found that leading etiology of central nervous system injuries are road accidents and indoor traumatism. Investigation of system of medical care revealed its poor condition and severe defects which prevent practical application of evidence-based recommendations for management of traumatic brain injury in underdeveloped countries including Republic of Guinea. Development of multiplanar strategy of control of neurotrauma is required which can be achieved only in case of massive governmental and international aid.

Gabapentin reduces cardiovascular responses to laryngoscopy and tracheal intubation.

BACKGROUND AND OBJECTIVE: We have compared the effects of gabapentin on arterial pressure and heart rate at induction of anaesthesia and tracheal intubation in a randomized double-blind study. METHODS: Ninety normotensive patients (ASA I) undergoing elective surgery were divided into three groups of 30 patients each. Patients received oral placebo (Group I), 400 mg of gabapentin (Group II) or 800 mg of gabapentin (Group III) 1 h prior to surgery in the operating theatre. After induction of anaesthesia heart rate and mean arterial pressure were recorded at baseline 1, 3, 5, 10 and 15 min after intubation. RESULTS: Patients receiving placebo and 400 mg gabapentin showed a significant increase in blood pressure and heart rate associated with tracheal intubation compared to baseline levels and Group III. There was significant decrease in heart rate and arterial pressure in Group III after intubation 1, 3, 5 and 10 min (P < 0.001, P < 0.001, P < 0.05 and P < 0.05, respectively) compared to Groups I and II. CONCLUSION: Given 1 h before operation gabapentin 800 mg blunted the arterial pressure and heart rate increase in first 10 min due to endotracheal intubation. Oral administration of gabapentin 800 mg before induction of anaesthesia is a simple and practical method for attenuating pressor response to laryngoscopy and tracheal intubation after standard elective induction.

A comparison of the effect on gastric emptying of propofol or dexmedetomidine in critically ill patients: preliminary study.

BACKGROUND: Propofol and dexmedetomidine are widely used for sedation in the intensive care unit yet there are limited data on its effects on gastric motility. In our preliminary study, we examined whether or not any effect of propofol and dexmedetomidine on gastric emptying is preserved in critically ill patients. METHODS: Twenty-four critically ill, enterally fed adult patients each received enteral feeding via a nasogastric tube at 50 mL h-1 throughout the 5-h study period. Either propofol 2 mg kg-1 h-1 (n = 12, Group P) or dexmedetomidine 0.2 microg kg-1 h- (n = 12, Group D) was given intravenously over 5 h. Gastric motility was measured indirectly by analysis of the absorption over time of 1.5 g of paracetamol administered into the stomach at the start of the study period. At the beginning and end of the study, residual gastric volume and pH of residual gastric fluid were measured. RESULTS: Gastric residual volume measured at the end of propofol infusion (19.33 +/- 11.33) was found to be higher when compared with the volume measured before infusion (11.33 +/- 4.84) and after dexmedetomidine infusion (9.17 +/- 4.54). But, there was no difference between groups in gastric emptying time (AUC120 894.53 +/- 499.39 vs. 1113.46 +/- 598.09 propofol and dexmedetomidine groups, respectively). CONCLUSION: In our study, gastric residual volume measured at the end of propofol infusion was found to be higher when compared with the volume measured before infusion and after dexmedetomidine infusion. There was no difference between groups in gastric emptying time.

Sequential pulmonary effects of radiotherapy detected by functional and radiological end points in women with breast cancer.

AIMS: To determine the pulmonary effects of locoregional irradiation on clinical and sub-clinical radiographic and functional end points in women with breast cancer, and whether the course of these end points is affected by laterality. MATERIALS AND METHODS: Twenty patients (10 irradiated on the left side and 10 irradiated on the right side) were prospectively evaluated for changes in pulmonary function tests, Tc-99m DTPA (diethylenetriamine pentaacetic acid) lung clearance scintigraphy and high-resolution computed tomography (HRCT) at 6, 16 and 52 weeks after radiotherapy. Tc-99m DTPA clearance, expressed as the biological half-time, T(1/2), was computed from the time-activity curves for 10 min for each lung. The irradiated lung volume was calculated for each patient. RESULTS: The mean irradiated lung volume was 6.4% +/- 2 (range 3-11%) for the entire population. In the whole study population, two (10%) patients, who were irradiated on the left side, had mild symptomatic radiation pneumonitis in the follow-up period. There was a statistically significant gradual reduction in all pulmonary function test values during the follow-up period. For patients irradiated on the left side, Tc-99m DTPA clearance T(1/2) values were statistically significantly decreased during the follow-up period (P = 0.03), but the decrease was not statistically significant for patients irradiated on the right side (P = 0.62). Tc-99m DTPA clearance T(1/2) values were statistically significantly decreased in the irradiated lung compared with the opposite lung, and no improvement was seen at week 52 after radiotherapy. The number of patients with changes on HRCT scans increased after radiotherapy, reaching a maximum at 16 weeks, when 80% of patients had changes. There was subsequent partial recovery 52 weeks after radiotherapy. CONCLUSION: Locoregional irradiation for breast cancer may cause sub-clinical irreversible impairment of radiological and functional pulmonary parameters. The increase in clearance rate of Tc-99m DTPA may be more prominent for patients with left-sided breast cancer.

Indoor airborne fungal spores and home characteristics in asthmatic children from Edirne region of Turkey.

BACKGROUND: The contribution of indoor fungal exposure to childhood asthma is not completely clear. OBJECTIVE: To investigate airborne fungal flora within the homes of asthmatic and control children, and to assess the influence of housing characteristics regarding indoor fungi. METHODS: Forty-seven atopic asthmatic and 23 nonatopic control children were studied. Allergen sensitivity was determined by skin prick tests. A thorough assessment, using a questionnaire and inspection surveys, was carried out. Home visits were made between October 2000 and February 2001. Samples of airborne fungal spores were collected from four rooms by the "open Petri dish" method. Indoor temperature and humidity were measured. RESULTS: The total indoor fungal colony counts from the living rooms and bedrooms were significantly higher in the asthma group than in controls (p = .012 and p = .003, respectively). The most commonly isolated genus was Cladosporium. Twelve of the asthmatic patients (25.53 %) were found to be sensitive to fungal allergens. The factors found to be associated with indoor fungal growth in logistic regression were visible fungal patches in the bathrooms [(odds ratio (OR) = 5.75; 95 % CI 1.19 to 27.70)], and the age of the house [OR = 4.24; 95 % CI 1.34 to 13.45]. Total fungal colony numbers did not correlate with indoor temperature or humidity. CONCLUSION: Fungal colony numbers were higher in the homes of asthmatic children than in those of controls. Therefore, indoor fungal exposure may contribute to childhood asthma. Bathrooms were the main source of fungal propagules. Old houses were more prone to fungal growth.

Indoor airborne fungal spores and home characteristics in asthmatic children from Edirne region of Turkey

Background: The contribution of indoor fungal exposure to childhood asthma is not completely clear. Objective: To investigate airborne fungal flora within the homes of asthmatic and control children, and to assess the influence of housing characteristics regarding indoor fungi. Methods: Forty-seven atopic asthmatic and 23 nonatopic control children were studied. Allergen sensitivity was determined by skin prick tests. A thorough assessment, using a questionnaire and inspection surveys, was carried out. Home visits were made between October 2000 and February 2001. Samples of airborne fungal spores were collected from four rooms by the "open Petri dish" method. Indoor temperature and humidity were measured. Results: The total indoor fungal colony counts from the living rooms and bedrooms were significantly higher in the asthma group than in controls (p = .012 and p = .003, respectively). The most commonly isolated genus was Cladosporium. Twelve of the asthmatic patients (25.53 %) were found to be sensitive to fungal allergens. The factors found to be associated with indoor fungal growth in logistic regression were visible fungal patches in the bathrooms [(odds ratio (OR) = 5.75; 95 % CI 1.19 to 27.70)], and the age of the house [OR = 4.24; 95 % CI 1.34 to 13.45]. Total fungal colony numbers did not correlate with indoor temperature or humidity. Conclusion: Fungal colony numbers were higher in the homes of asthmatic children than in those of controls. Therefore, indoor fungal exposure may contribute to childhood asthma. Bathrooms were the main source of fungal propagules. Old houses were more prone to fungal growth (AU)

Historial: La contribución al asma infantil a causa de la exposición a hongos de interior no está totalmente clara. Objetivo: Intentamos investigar la flora de hongos que se encuentra en el aire dentro de los hogares de los niños asmáticos y los niños controlados, así como determinar la influencia de las características de la casa respecto a los hongos de interior. Métodos: Cuarenta y siete niños asmáticos y veintitrés niños controlados no alérgicos. La reacción alérgica se determinó mediante pruebas de alergia. Se llevó a cabo una evaluación exhaustiva utilizando un cuestionario y encuestas de inspección. Las visitas domiciliarias fueron realizadas entre octubre de 2000 y febrero de 2001. Las muestras de las esporas de hongos aerotransportadas fueron recogidas en cuatro habitaciones por el método de la "placa de Petri abierta". Se midió la temperatura y la humedad interior. Resultados: El número total de hongos de interior en las salas de estar y en los dormitorios era notablemente más elevado en el grupo de asmáticos que en el otro grupo (p = ,012 y p = ,003, respectivamente). El género aislado más común fue el Cladosporium. Doce de los pacientes asmáticos (25,53 por ciento) resultaron ser sensibles a los hongos. La regresión logística puso en evidencia que las manchas de hongos visibles en los cuartos de baño [(cociente de las probabilidades (O) = 5,75; 95 por ciento del ci 1,19 a 27,70)], y la antigüedad de la casa [O = 4,24; 95 por ciento del ci 1,34 a 13,45], estaban correlacionados con el crecimiento de los hongos de interior. El número total de hongos de la colonia no está relacionado con la temperatura o la humedad interior. Conclusión: El número de hongos de la colonia era más elevado en los hogares de niños asmáticos que en los controlados. Por lo tanto, la exposición a hongos de interior puede contribuir al desarrollo del asma infantil. Los cuartos de baño eran la fuente principal de propagación de hongos. Las casas viejas eran más propensas al crecimientote los hongos (AU)

Genotoxicity of waste anaesthetic gases.

BACKGROUND AND AIM: The possibility of a potential mutagenic or carcinogenic action of chronic exposure to low concentrations of inhalational anaesthetics has been previously studied, with conflicting results. The purpose of this study was to assess whether occupational exposure to waste anaesthetic gases increases genotoxic risk. We examined peripheral lymphocytes from anaesthetists for both sister chromatid exchange (SCE) and for cells with high-frequency SCEs (HFCs). METHOD: A group of 16 non-smoking anaesthetists with occupational exposure to anaesthetic gases and a sex- and age-matched group matched 16 non-smoking matched physicians without occupational exposure to anaesthetic gases were studied. The participants were also selected on the basis of similar responses to a questionnaire assessing risk of genotoxicity relating to other aspects of life. RESULT: SCEs, and HFC percentages obtained from the exposed anaesthetists (6.6+/-2.4 and 12.2+/-15.9) were greater but not statistically significantly so than in the reference group (5.2+/-1.6 and 5.9+/-10.0). CONCLUSION: This study does not support the existence of an association between occupational exposure to waste anaesthetic gases and an increase in SCEs in lymphocytes. The nature of our anaesthesia practice suggests exposure was likely to be low. It should be noted that some anaesthetic gases produce lesions that can be efficiently repaired in mitogen-stimulated lymphocytes in vitro but not in circulating lymphocytes.

Reliability of radiological parameters measured on anteroposterior pelvis radiographs of patients with developmental dysplasia of the hip.

In order to evaluate the reliability of radiological parameters, we retrospectively reviewed the anteroposterior pelvic x-rays of 30 hips in 15 patients with developmental dysplasia of the hip. The following parameters were studied: acetabular index, center-edge angle, c/b ratio, Sharp's angle and teardrop figure. Each of the two authors measured the parameters twice on two separate days. Statistical assessment of the interobserver and intraobserver reliability was performed. The measurements of acetabular index and c/b ratio were reliable according to both intra- and interobserver reliability analysis, whereas center-edge angle, teardrop figure and Sharp's angle evaluations were reliable in the intraobserver comparisons but not in the interobserver comparisons. In conclusion, both acetabular index and c/b ratio may be used safely in the evaluation of developmental dysplasia of the hip.

Maternal serum tumor necrosis factor-alpha in patients with preterm labor.

OBJECTIVE: To evaluate maternal serum tumor necrosis factor-alpha (TNF alpha) levels in patients with preterm labor without clinical signs of chorioamnionitis and to compare these with levels in nonlaboring controls. STUDY DESIGN: The study group consisted of 44 patients with a singleton pregnancy admitted to our department with the diagnosis of preterm labor between 26 and 36 weeks' gestation. The control group consisted of 25 healthy consecutive patients with a singleton pregnancy without preterm contractions who were seen for routine antenatal visits. Maternal serum TNF alpha was measured using a solid-phase, two-site chemiluminescent enzyme immunometric assay method, and levels were compared in patients with preterm labor and nonlaboring controls. RESULTS: The median maternal serum TNF alpha level for patients with preterm labor was 29.4 pg/mL (range, 12.3-173) as compared with 23 pg/mL (range, 11.9-62.7) in the control group (P = .031). Among 44 patients with preterm labor, 14 (32%) delivered within one week of admission. The median maternal serum TNF alpha level was significantly higher in patients who delivered within one week than in those who delivered after one week and controls (71.3 pg/mL [range, 28-173]) versus 22 pg/mL (range, 12.3-86) versus 23 pg/mL (range, 11.9-62.7) (P < .0001). CONCLUSION: TNF alpha was elevated in patients with preterm labor, suggesting a role for maternal serum TNF alpha in its initiation.

Consanguineous marriages in Denizli, Turkey.

For the study 1000 families were interviewed during 1996 in the city of Denizli, which is situated in Western Anatolia and has a population of 79211 families. The overall rate of consanguinity was 11.7%, with a mean inbreeding coefficient of 0.00873. The principal type of consanguineous marriage recorded was between first cousins, which accounted for 49.6% of all unions. For both sexes, a significant negative association was observed between consanguinity and mean age at marriage and level of education.