Association of Syntax Score II with Contrast-induced Nephropathy and Hemodialysis Requirement in Patients with ST Segment Elevation Myocardial Infarction Undergoing Primary Percutaneous Coronary Intervention

BACKGROUND AND OBJECTIVES@#Contrast-induced nephropathy (CIN) is a common complication of primary percutaneous coronary intervention (pPCI) and is associated with high mortality and morbidity and long hospital stay in patients with ST elevation myocardial infarction (STEMI). The Syntax Score (SS) has previously been studied in STEMI patients, and it was associated with increased CIN development and long-term mortality. This study investigates a possible relationship between CIN development and Syntax Score II (SSII) and compares SS and SSII by assessing CIN risk in STEMI patients treated with pPCI.@*METHODS@#A total of 1,234 patients who underwent pPCI were divided into 2 groups according to CIN development. Patients with CIN were further divided into 2 groups according to whether or not they required hemodialysis. Reclassification tables, net reclassification improvement, and integrated discriminative improvement methods were used to assess the additive predictive value of SSII for predicting CIN.@*RESULTS@#In the present study, 166 patients (13.5%) had CIN. Although both SS and SSII were significantly higher in CIN patients, only SSII was an independent predictor of CIN (odds ratio [OR], 1.031; 95% confidence interval [CI], 1.012–1.051; p < 0.001) and hemodialysis requirement (OR, 1.078; 95% CI, 1.046–1.078; p < 0.001). When comparing SSII and SS in their ability to determine CIN risk, we found SSII to have a reclassification improvement of 27.59% (p < 0.001) and an integrated discrimination improvement of 9.1% (p < 0.001).@*CONCLUSIONS@#The combination of clinical and anatomic variables can more accurately identify patients who are at high risk for CIN after pPCI. While SSII is harder to calculate than SS, it provides better prediction for CIN and hemodialysis requirement than SS.

Oxidative stress parameters in localized scleroderma patients.

Localized scleroderma (LS) (morphea) is a chronic, inflammatory skin disease with unknown cause that progresses with sclerosis in the skin and/or subcutaneous tissues. Its pathogenesis is not completely understood. Oxidative stress is suggested to have a role in the pathogenesis of localized scleroderma. We have aimed to determine the relationship of morphea lesions with oxidative stress. The total oxidant capacity (TOC), total antioxidant capacity (TAC), paroxonase (PON) and arylesterase (ARES) activity parameters of PON 1 enzyme levels in the serum were investigated in 13 LS patients (generalized and plaque type) and 13 healthy controls. TOC values of the patient group were found higher than the TOC values of the control group (p < 0.01). ARES values of the patient group was found to be higher than the control group (p < 0.0001). OSI was significantly higher in the patient group when compared to the control (p < 0.005). Oxidative stress seems to be effective in the pathogenesis. ARES levels have increased in morphea patients regarding to the oxidative stress and its reduction. Further controlled studies are required in wider series.

How women are treated during facility-based childbirth: development and validation of measurement tools in four countries - phase 1 formative research study protocol.

BACKGROUND: Every woman has the right to dignified, respectful care during childbirth. Recent evidence has demonstrated that globally many women experience mistreatment during labour and childbirth in health facilities, which can pose a significant barrier to women attending facilities for delivery and can contribute to poor birth experiences and adverse outcomes for women and newborns. However there is no clear consensus on how mistreatment of women during childbirth in facilities is defined and measured. We propose using a two-phased, mixed-methods study design in four countries to address these research gaps. This protocol describes the Phase 1 qualitative research activities. METHODS/DESIGN: We will employ qualitative research methodologies among women, healthcare providers and administrators in the facility catchment areas of two health facilities in each country: Ghana, Guinea, Myanmar and Nigeria. In-depth interviews (IDIs) and focus group discussions (FGDs) will be conducted among women of reproductive age (15-49 years) to explore their perceptions and experiences of facility-based childbirth care, focused on how they were treated by healthcare workers and perceived factors affecting how they were treated. IDIs will also be conducted with healthcare providers of different cadres (e.g.: nurses, midwives, medical officers, specialist obstetricians) and facility administrators working in the selected facilities to explore healthcare providers' perceptions and experiences of facility-based childbirth care and how staff are treated, colleagues and supervisors. Audio recordings will be transcribed and translated to English. Textual data will be analysed using a thematic framework approach and will consist of two levels of analysis: (1) conduct of local analysis workshops with the research assistants in each country; and (2) line-by-line coding to develop a thematic framework and coding scheme. DISCUSSION: This study serves several roles. It will provide an in-depth understanding of how women are treated during childbirth in four countries and perceived factors associated with this mistreatment. It will also provide data on where and how an intervention could be developed to reduce mistreatment and promote respectful care. The findings from this study will contribute to the development of tools to measure the prevalence of mistreatment of women during facility-based childbirth.

HLA-B51 subtypes in Turkish patients with Behçet's disease and their correlation with clinical manifestations.

Behçet's disease (BD) is a multisystemic inflammatory disease believed to be triggered by microbial or environmental factors on a genetic platform. Clinically, it may have an impact on many body systems, including the mucocutaneous, ocular, articular, vascular, and neurological systems. In this study, we aimed to determine the HLA-B51 subtypes and their correlations with the clinical findings of BD. Fifty-one patients with BD and 44 gender- and age-matched healthy subjects were included in this study. The HLA-B51 subtypes of all participants were determined, and the correlations of the clinical manifestations of the disease with the HLA-B51 subtypes were analyzed. HLA-B51 positivity was found to be significantly higher in the patient group (P < 0.001, RR = 15.20), which had significantly more frequent HLA-B5101, HLA-B5102(01), HLA-B5109, and HLA-B5122 subtypes than the healthy subjects (all P < 0.05). Furthermore, considering the correlation between the genetic makeup and clinical findings, the HLA-B5109 subtype was found to be less frequent in patients with papulopustular skin lesions (P = 0.042). The frequency of HLA-B5103 was significantly higher in patients with central nervous system involvement (P = 0.015). There may be a relationship between HLA-B5102(01), HLA-B5109, and HLA-B5122 in addition to HLA-B51 and HLA-B5101(01) in Turkish patients with BD. The HLA-B5109 subtype can be protective against papulopustular lesion development; however, the HLA-B5103 subtype may pose a risk for neuro-Behçet development in BD.

Knowledge and attitudes of primary care physicians regarding food allergy and anaphylaxis in Turkey

Background: Food allergy, which becomes an important public health problem, can lead to important morbidity and mortality. Patients with food allergies are more likely to first present to their primary care physicians. We aimed to determine the knowledge of primary care physicians with regard to management of food allergies and anaphylaxis. Methods: Primary care physicians were surveyed via a questionnaire aimed to document their knowledge and attitudes about food allergy and anaphylaxis management. Results: A total of 297 participants completed questionnaires, 55.6% of which were female. Participating physicians had a mean of 17.0 ± 6.1 years of experience. Participants answered 47.2% of knowledge-based items correctly. Overall, participants fared poorly with regard to their knowledge on the treatment of food allergies and anaphylaxis. For example while 60.7% knew that a child can die from the milk allergy reaction, only 37.5% were aware that a child with IgE mediated milk allergies cannot eat yoghourts/cheese with milk. Besides, 53.1% of them chose epinephrine as their first treatment of choice in case of anaphylaxis, yet only 16.6% gave the correct answer about its dosage. Nearly a third of participants (36.7%) felt they were knowledgeable enough regarding the management of patients with food allergies, while 98.2% extended their request for future periodic educational meetings on allergic disorders. Conclusion: Knowledge of food allergy and anaphylaxis among primary care physicians was unsatisfactory. Provision or periodic educational programmes should be aimed at improving the standard of practice as acknowledged by the participants (AU)

Evaluation of systemic oxidant/antioxidant status and paraoxonase 1 enzyme activities in psoriatic patients treated by narrow band ultraviolet B phototherapy.

OBJECTIVES: Ultraviolet B is a potent oxidative stress (OS) inducer in the skin; however, there are no data about the systemic oxidative effect of narrow band ultraviolet B (NB-UVB) phototherapy. In this study, we aimed to investigate the change in the OS status of psoriatic patients who were treated by NB-UVB phototherapy and to determine the relationships between OS, psoriasis severity, and systemic inflammatory condition. METHODS: Twenty-four psoriatic patients were treated with a total of 30 sessions of NB-UVB irradiation. Psoriasis area and severity index (PASI), serum levels of high sensitive C-reactive protein (hsCRP), total antioxidant status (TAS), total oxidant status (TOS), the oxidative stress index (OSI), serum paraoxonase (PON), and arylesterase (ARE) activities before and after NB-UVB therapy were determined. RESULTS: PASI scores significantly decreased after NB-UVB therapy (P = 0.001). The pre- and post-treatment hsCRP and TAS levels were similar (P = 0.253 and 0.301, respectively). TOS and OSI values significantly increased after phototherapy (both P < 0.001). PON and ARE activities did not change after treatment (both P > 0.05). There was no correlation between PASI and hsCRP, TAS, TOS, OSI, PON, and ARE values (P > 0.05). CONCLUSION: A systemic OS may emerge in psoriatic patients treated by NB-UVB phototherapy.

Evaluation of total oxidant and antioxidant status in localized and generalized vitiligo.

BACKGROUND: Vitiligo is an acquired depigmentation disorder, and oxidative stress is suggested to have a major role in its aetiopathogenesis. AIM: To assess whether oxidative stress has a greater role in generalized than in localized vitiligo. METHODS: We assessed 31 patients with active vitiligo (17 localized, 14 generalized) and 38 healthy controls. Serum total oxidant status (TOS), total antioxidant status (TAS) and oxidative stress index (OSI) were determined. RESULTS: Patients with vitiligo had significantly lower TAS and higher TOS and OSI values than controls. Both localized and generalized vitiligo were associated with lower TAS and higher TOS and OSI values, compared with controls, and all three did not differ with vitiligo type. CONCLUSIONS: A systemic oxidative stress exists in patients with vitiligo. These results indicate that the global antioxidant capacity of patients might have been exhausted through a defence mechanism against oxidative processes. The imbalance in TOS/TAS status may have an important role in the aetiopathogenesis of vitiligo, regardless of the clinical variant of the disease.

The relationship between oxidative stress, smoking and the clinical severity of psoriasis.

BACKGROUND: Recent studies suggested that increased oxidant products and decreased antioxidant system functions may be involved in the pathogenesis of psoriasis. In this study, we investigated total oxidative status, Paraoxonase (PON)1/arylesterase enzyme activities and severity of the disease in smoker and non-smoker psoriatic patients. METHODS: Fifty-four patients with plaque type psoriasis (28 smokers and 26 non-smokers) and 62 healthy volunteers (16 smokers and 46 non-smokers) were enrolled in the study. Serum total oxidant status (TOS), total antioxidant capacity (TAC) and arylesterase levels were measured, and oxidative stress index (OSI) was calculated in all participants. RESULTS: Psoriasis Area and Severity Index scores were significantly higher in smoker patients than in non-smoker patients (P = 0.014). Both smoker and non-smoker patients had significantly increased TOS levels and OSI values and decreased TAC levels than healthy subjects (all P values = 0.000). The TAC and TOS levels, OSI values and arylesterase activities were similar between smoker and non-smoker patients. The levels of triglyceride (TG), total cholesterol (TC), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) were not significantly different between smoker and non-smoker psoriasis patients. When compared with non-smoking controls, only smoking psoriasis patients had significantly higher TG (P = 0.005), lower HDL (P = 0.022) and lower arylesterase levels (P = 0.015). There were no significant correlations with Psoriasis Area and Severity Index (PASI) scores and TAC, TOS, OSI, TG, TC, HDL and LDL levels in all psoriasis patients. CONCLUSIONS: Oxidative stress is increased in psoriasis patients regardless of their smoking status. The decreased arylesterase activity in smoker psoriasis patients suggested that smoking may be a considerable risk factor that increases the severity of psoriasis by increasing oxidative stress in these patients.

Knowledge and attitudes of primary care physicians regarding food allergy and anaphylaxis in Turkey.

BACKGROUND: Food allergy, which becomes an important public health problem, can lead to important morbidity and mortality. Patients with food allergies are more likely to first present to their primary care physicians. We aimed to determine the knowledge of primary care physicians with regard to management of food allergies and anaphylaxis. METHODS: Primary care physicians were surveyed via a questionnaire aimed to document their knowledge and attitudes about food allergy and anaphylaxis management. RESULTS: A total of 297 participants completed questionnaires, 55.6% of which were female. Participating physicians had a mean of 17.0 ± 6.1 years of experience. Participants answered 47.2% of knowledge-based items correctly. Overall, participants fared poorly with regard to their knowledge on the treatment of food allergies and anaphylaxis. For example while 60.7% knew that a child can die from the milk allergy reaction, only 37.5% were aware that a child with IgE mediated milk allergies cannot eat yoghourts/cheese with milk. Besides, 53.1% of them chose epinephrine as their first treatment of choice in case of anaphylaxis, yet only 16.6% gave the correct answer about its dosage. Nearly a third of participants (36.7%) felt they were knowledgeable enough regarding the management of patients with food allergies, while 98.2% extended their request for future periodic educational meetings on allergic disorders. CONCLUSION: Knowledge of food allergy and anaphylaxis among primary care physicians was unsatisfactory. Provision or periodic educational programmes should be aimed at improving the standard of practice as acknowledged by the participants.

Using a Caesarean Section Classification System based on characteristics of the population as a way of monitoring obstetric practice.

OBJECTIVE: to compare the distribution of caesarean rates in the Robson's 10 groups classification in order to see if any change occurred after the implementation of an audit and feedback intervention. DESIGN: cross sectional, before and after an audit and feedback study. SETTING: a university hospital in Brazil. METHODS: clinical records of all births during two three months-periods were evaluated. Each case of CS was classified into one of ten mutually exclusive categories according to obstetric characteristics. The proportion of CS in each group was compared in both periods. RESULTS: total number of deliveries and the high rate of CS were similar in both periods. Group 3 (multiparous excluding previous CS, single, cephalic, >/= 37 weeks, spontaneous labour) accounted for the largest proportion of deliveries, 28.5 and 26.8% in both periods. Group 1 (nulliparous, single, cephalic, >/= 37 weeks, spontaneous labour) was the second largest one, while Group 5 (previous caesarean section, single, cephalic, and >/= 37 weeks) was the third but the largest contributor to CS, accounting for 16.6 and 14.9% among all deliveries in both periods. Groups 2 (nulliparous, single, cephalic, >/= 37 weeks, induction or CS before labour) and 4 (multiparous excluding previous CS, single, cephalic, >/= 37 weeks, induction or CS before labour) were less prevalent, however had higher rates of CS. Only in Group 10 (All single, cephalic,

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

BACKGROUND: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the NCF2 gene, which encodes the polypeptide p67(phox), a key cytoplasmic protein in the phagocyte NADPH oxidase system. NCF2 is localized on chromosome 1q25, encompasses 40 kb and contains 16 exons. MATERIALS AND METHODS: We report here the clinical and molecular characterization of six patients with CGD from six consanguineous Turkish families. The ages of the five female patients were between 3 and 22 years and a male patient was 2 years old; all patients showed clear clinical symptoms of CGD. RESULTS: The mothers of the patients did not show a bimodal histogram pattern specific for X-CGD in the dihydrorhodamine-1,2,3 (DHR) assay. Moreover, p67(phox) protein expression was not detectable using flow cytometric analysis of the patients' neutrophils except in those from patient 6, which had a diminished expression. Mutation analysis of NCF2 revealed four different homozygous mutations: a novel nonsense mutation in exon 3 c.229C>T, p.Arg77X; a novel missense mutation in exon 4 c.279C>G, p.Asp93Glu; a nonsense mutation in exon 4 c.304C>T, p.Arg102X; and a novel missense mutation in exon 6 c.605C>T, p.Ala202Val. The parents were found to be heterozygotes for these mutations. CONCLUSIONS: The prevalence of NCF2 mutant families is approximately 15% in our series of 40 CGD families. This high incidence of A67 CGD in Turkey is undoubtedly caused by the high incidence of consanguineous marriages. We found three new mutations in NCF2 and one previously described. These are presented together with an overview of all NCF2 mutations now known.

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.

BACKGROUND: One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the CYBA gene, which encodes the alpha polypeptide of cytochrome b(558), (also known as p22-phox), a key transmembrane protein in the phagocyte NADPH oxidase system. This gene is localized on chromosome 16q24, encompasses 8.5 kb and contains six exons. MATERIALS AND METHODS: We report here the clinical and molecular characterization of 12 AR-CGD patients from 10 consanguineous, unrelated Turkish families with clinical CGD and positive family history. The ages of the six male and six female patients were between 1and 18 years. Before mutation analysis, subgroup analysis of patients was made by flow cytometry with antibodies against NADPH-oxidase components and with the DHR assay (flow cytometric assay of NADPH oxidase activity in leucocytes). RESULTS: Mutation analysis of CYBA showed six different mutations: a frameshift insertion in exon 3 (C after C166); a missense mutation in exon 2 (p.Gly24Arg), a splice-site deletion in intron 1 (4-bp deletion +4_+7 AGTG), a novel nonsense mutation in exon 6 (p.Cys113X), a novel large deletion of exons 3-6 and a novel 1-bp deletion in exon 6 (c.408delC). All mutations were present in homozygous form and all parents investigated were found to be heterozygotes for these mutations. CONCLUSIONS: In our series of 40 CGD families, approximately 25% of the families have p22-phox defects, with six different mutations, including three novel mutations. The high rate of consanguineous marriages seems to be the underlying aetiology.

Congenital cavernous hemangioma of the calvaria. Case report.

The authors present the case of a 6-month-old infant with a cavernous hemangioma of the parietal bone and discuss the radiological, operative, and pathological features and differential diagnosis of these extremely rare lesions in infants. Only 1 case of an infant with a calvarial cavernous hemangioma without intracranial invasion has previously been reported, and that case involved a 4 month old. Although a cavernous hemangioma of the calvaria is extremely rare in the newborn, this condition should be included in the differential diagnosis of calvarial lesions. During surgical treatment of calvarial cavernous hemangiomas, utmost attention should be paid to avoid blood loss, which could be fatal in infants.

AA-861 appears to suppress leukocyte infiltration induced by traumatic brain injury in rats.

OBJECTIVE: To study the effect of 2,3,5-Trimethyl-6-(12-hydroxy-5,10-dodecadiynyl)-1,4-benzoquinone (AA-861) on intercellular adhesion molecule 1 (ICAM-1) and P-selectin expression, leukotriene B4 (LTB4) level, and myeloperoxidase (MPO) activity 24 hours after traumatic brain injury (TBI). METHODS: This study was carried out in the laboratory of the Department of Clinical Pharmacology, Osmangazi University, Eskisehir, Turkey in 2006. Traumatic brain injury was induced in 2 sets of animals using Feeney`s weight-drop method. The first set was used to study the expression of ICAM-1, P-selectin, CD11a, and mouse anti-rat granulocyte monoclonal antibody (HIS48). The second was used to study tissue changes in LTB4 level, and MPO activity. The rats were sacrificed at 0.5, 4, 24, 48, and 72 hours post-injury. RESULTS: Intercellular adhesion molecule (p=0.000001) and P-selectin expression (p=0.00002) peaked at 24 hours, remained high at 48 hours (p=0.00012 for ICAM-1, and p=0.00002 for P-selectin), and 72 hours (p=0.000008 for ICAM-1, p=0.0011 for P-selectin). The HIS48 intensity was significantly increased at 24-72 hours (p=0.022), while the intensity of CD11a became significant only at 72 hours (p=0.040). Myeloperoxidase activity increased notably at 24 hours (p=0.00077), and peaked at 48 hours (p=0.00001). The LTB4 increased markedly at 4 hours (p=0.000004), and peaked at 24 hours (p=0.000001). Pretreatment with AA-861 considerably suppressed the expression of ICAM-1 (p=0.0053), and P-selectin (p=0.0018) on microvascular endothelium, and lowered MPO activity (p=0.0007), and LTB4 level (p=0.008) at 24 hours. CONCLUSION: The present results suggest that AA-861 might be a potential mediator in the treatment of brain inflammation in TBI.

Frontoethmoid sinus osteoma as a cause of subperiosteal orbital abscess.

A 65-year-old woman presented with severe periorbital pain and swelling of the left eye, with complete ptosis, proptosis, and conjunctival chemosis. The eye was in a hypotropic position, and activity in the left superior rectus was inadequate. A firm, elastic, 2-cm mass was palpated near the superior orbital rim. Computed tomography revealed a subperiosteal abscess (SPA) at the superior portion of the orbit and a large frontoethmoidal sinus osteoma. After the SPA had been surgically drained and the osteoma completely removed, the patient recovered, with resolution of proptosis, ptosis, and motility limitations. Osteomas of the paranasal sinuses are usually asymptomatic and rarely cause SPA and orbital cellulitis. Therefore, osteoma cases must be closely followed to ensure that early diagnosis and treatment of SPA are successful in preventing severe visual loss and rescuing the patient's vision.

Mutations of chronic granulomatous disease in Turkish families.

BACKGROUND: Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD and have been reported to be responsible for approximately 70% of all CGD cases. The aim of this study was to identify the CGD mutations in a group of Turkish CGD patients and to evaluate the predominance of CGD mutations as X-linked or autosomal recessive (AR) within the Turkish CGD families with known mutations. MATERIALS AND METHODS: Two Turkish CGD families were included in the study, and mutations were identified by sequence analysis of DNA and RNA from peripheral blood in the patients. Before mutation analysis, subgroup analysis of patients was made by flow cytometry with antibodies against NADPH oxidase components and with DHR-123 oxidase activity assay. For comparison, we included previously reported results from four other Turkish CGD families. RESULTS: Two different mutations were identified, one of them a novel mutation g.700G>T located in exon 7 of CYBB, and the other a hot-spot mutation located in exon 2 of the NCF1 gene. These mutations were detected in three patients from two Turkish families. CONCLUSIONS: Until now, we have altogether identified mutations in six Turkish CGD families. In this limited number of families our results show AR-CGD in two-thirds of the Turkish families investigated, in contrast to previous reports in the literature. This is probably due to the high rate of consanguineous marriages in Turkey. Consanguineous parents were found in 75% of the families with AR-CGD patients, which favours homozygous deficiencies.

Oesophageal involvement during attacks in pemphigus vulgaris patients.

BACKGROUND: Pemphigus vulgaris (PV) is a rare autoimmune bullous skin disorder characterized by frequent involvement of the mucous membranes, usually beginning at the mouth. AIMS: To investigate the oesophageal involvement in patients with PV and to explore the primary relationship of the disease with symptoms such as dysphagia, odynophagia and retrosternal burning. METHODS: Oesophageal involvement was investigated by upper gastrointestinal endoscopy and biopsy during the early phase of the attacks in 26 patients with PV (12 men, 14 women, age range 24-63 years). RESULTS: Histopathological examination and direct immunofluorescence of the oesophageal biopsy specimens revealed pemphigus involvement in 12 of 26 patients (46.15%). CONCLUSION: The oesophagus is an important predilection zone for PV, thus care must be taken to detect these lesions at an early stage.

Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family.

BACKGROUND: Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of the four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD, responsible for approximately 70% of all CGD cases. The aim of the study was to evaluate the hypothesis that age-related skewing of X-chromosome inactivation, as described in several CGD families, is caused by preferential survival of bone marrow clones with an inactive NADPH oxidase. MATERIALS AND METHODS: We studied the neutrophils from three patients and four carriers in three generations of a Turkish family with X-linked CGD. Carrier detection was carried out by the dihydrorhodamine (DHR)-1,2,3 assay, which measures on a per-cell basis the NADPH oxidase-dependent oxidation of DHR by phagocytes. The X-chromosome inactivation pattern was determined with the HUMARA assay in DNA from leucocytes as well as in DNA from a buccal smear of the four carriers. RESULTS: The three patients were identified by a negative DHR test, and the mutation in their CYBB gene was characterized by DNA sequencing. Moreover, we found an age-related degree of skewing of X-chromosome inactivation in the leucocytes of the four X-CGD carriers, both at the protein level (NADPH oxidase activity) and at the DNA level (HUMARA assay). However, similar skewing of X-chromosome inactivation was found in the buccal DNA from these women. CONCLUSIONS: These novel findings indicate that the age-related degree of skewing was probably a chance finding, not related to preferential survival of NADPH oxidase-deficient precursor cells, because this enzyme is not expressed in (buccal) epithelial cells.