Dorsal nail plate versus percutaneous k-wire fixation in the treatment of displaced distal radius fractures.

Distal radius fractures are the most common fractures in the elderly, yet the treatment is controversial and still debated in the literature. Twenty four patients aged older than sixty with distal radial fractures were treated by dorsal nail plate. We compared them with twenty four similar matched patients treated by percutaneous Kirschner wiring surgical method. The patients were operated on by a surgeon experienced in carrying out hand surgery. The purpose of this retrospective review was to compare the clinical and radiological outcomes in elderly patients with displaced distal radial fractures who were treated with either the dorsal nail plate or percutaneous Kirschner wiring surgical procedures. Both groups had high union rates and low complication rates for the treatment of displaced distal radius fractures in elderly patients. However, better functional results can be expected in dorsal nail plate.

An alternative classification of occupational hand injuries based on etiologic mechanisms: the ECOHI classification.

BACKGROUND: The aim of this study was to construct an alternative classification system for occupational hand injuries based on etiologic mechanisms and to analyze the injury patterns resulting from various mechanisms. METHODS: A retrospective analysis of patients operated between January 2005 and December 2007 in two hand surgery units staffed by a team of hand surgeons was made. The patient files were retrospectively examined, and mechanisms causing the injuries were analyzed. Similar mechanisms were classified in the same groups, and the mechanism of injury was matched with type of injury often caused by this mechanism. In the classification of injuries, the tissues that were injured were taken as a basis for classification. 4120 upper extremity injuries were seen in the study hospitals, and 2188 (53.1%) of them were occupational injuries. There were 2063 males (94.3%) and 125 females (6.7%). The mean age was 28.2 (range: 15-71) years. RESULTS: Examination of the agents causing injury yielded 62 agents. Further examination of these agents showed that the mechanism by which they caused injury was similar in some agents, and these agents were placed in the same groups, which constituted the Etiologic Classification of Hand Injuries (ECOHI) classification. These groups of mechanisms were: cutting-penetrating, cutting-crushing, crushing-penetrating, crushing-compressing, crushing-burning, stinging, avulsing, electrical current, and chemical injuries and miscellaneous burns. The two most common mechanisms were crushing-compressing and cutting-crushing types, constituting 744 (34.0%) and 514 (23.5%) of injuries, respectively. CONCLUSION: We believe that ECOHI is important to form a common language for the classification of etiologic factors.

Fractures of the fingers missed or misdiagnosed on poorly positioned or poorly taken radiographs: a retrospective study.

BACKGROUND: Missed fractures, the most common diagnostic error in emergency departments, are usually the result of a misread radiograph or the failure to obtain a radiograph. However, a poorly positioned or poorly taken radiograph may also result in diagnostic errors. We sought to analyze the frequency of missed or misdiagnosed finger fractures that could be attributed to inadequate radiographs. METHODS: We reviewed the medical records of the hand surgery divisions of Istanbul Bilim University Medical Faculty Hospital and the Orthopedics Department of Private Florence Nightingale Hospital between January 2008 and March 2010 for patients with fractures of the fingers that had been missed or misdiagnosed on the basis of inadequate radiographs. RESULTS: In 182 patients, we identified 7 missed and 7 misdiagnosed fractures of the fingers because of inadequate radiographs. Lack of a true lateral radiographic view of the fingers or a true anteroposterior radiographic view of the thumb was the most frequent reason for diagnostic errors (71%; 10 of 14), leading to missed fractures in six patients and to misdiagnosed fractures in four patients. Superimposition of the fingers on lateral radiographs led to misjudging of displaced proximal phalangeal fractures of the fifth finger in three patients. CONCLUSION: Diagnostic errors attributed to inadequate radiographs are rare. Proper radiographic evaluation of finger trauma requires at least true anteroposterior and lateral views. An oblique view can complement the lateral view but not replace it. Poor quality radiographs or inadequate views should never be accepted or used as a basis for treatment.

Evaluation of patients undergoing removal of glass fragments from injured hands: a retrospective study.

The hand is the body part most frequently injured by broken glass. Glass fragments lodged in soft tissues may result in numerous complications, such as infection, delayed healing, persistent pain, and late injury as a result of migration. Between 2005 and 2010, we removed 46 glass particles from the hands of 26 patients. The injuries were caused by the following: car windows broken during motor vehicle accidents in 11 patients (42%); fragments from broken glasses, dishes, or bottles in 9 (35%); the hand passing through glass in 5 (19%); and a fragment from a broken fluorescent lamp in 1 (4%) patient. Despite the efficacy of plain radiographs in detecting glass fragments, these are sometimes not obtained. Given the relatively low cost, accessibility, and efficacy of radiographs, and the adverse consequences of retained foreign bodies, the objections to obtaining radiographs should be few in diagnosing glass-related injuries of the hand.

Reconstruction of complex groin defects with inferior epigastric artery-based rectus abdominis muscle flaps: report of two cases.

Because the extremities are dependent on a single vascular supply, namely the brachial and femoral arteries, injuries around the girdles are challenging, and may contribute to high morbidity rates such as extremity loss, or even mortality due to bleeding, sepsis or vascular compromise. The reconstruction or aided closure of these regions may present additional technical difficulties in the presence of a vascular injury that complicates the use of a microvascular-free transfer, which sometimes may be needed to cover the exposed vessels, bones, tendons, and cartilages whenever the neighboring skin and subcutaneous tissue are inadequate or demised. In these circumstances, pedicled regional flaps of muscular or musculocutaneous consistency (especially if a bulk or rich vascular tissue is needed) would be an alternative. In this report, we present two cases that underwent femoral artery repair via saphenous vein grafting in the vascular surgery clinic followed by our inferiorly based pedicled rectus abdominis muscle flap coverage procedure.

Delayed rupture of the extensor hallucis longus and extensor digitorum communis tendons after breaching the anterior capsule with a radiofrequency probe during ankle arthroscopy: a case report.

A 40-year-old man with early arthritis, loose bodies, and anterolateral joint impingement symptoms in his left ankle, which was refractory to noninvasive therapeutic modalities for 1 year, underwent ankle arthroscopy and radiofrequency thermal ablation. The anterior capsule of the ankle joint was breached by the radiofrequency probe while the loose bodies were removed from the anterior recess, exposing the extensor tendons and resulting in a delayed spontaneous rupture of the extensor hallucis longus tendon and extensor tendons to the second and third toes. The extensor hallucis longus tendon was repaired with a semitendinosus tendon graft, and extensor digitorum tendons underwent primary repair. The patient regained full function and was symptom free 1 year after surgery.

[Evaluation of long-term results in mutilating hand injuries]. / Agir hasarli el yaralanmalarinda tedavi sonuçlarinin degerlendirmesi.

BACKGROUND: The aim of this study is to report the surgical procedures performed in patients with mutilating hand injuries and evaluate the outcomes of treatment. METHODS: A retrospective evaluation of 130 patients operated between 2000 and 2005 for mutilating hand injuries is presented. Twenty-five of the patients could be followed until the end of rehabilitation. The grip power and ranges of motion in affected joints were determined. Minnesota manipulation speed test and Purdue Pegboard Test were used for evaluation of functional results. RESULTS: Mean range of motion was 64.7% (minimum: 17%, maximum 96%) of the uninjured extremity. Mean grip strength was 52% (15-80%) of the uninjured extremity. Lateral pinch was 66% (25%-81%) of the contralateral hand and the results were 53% (12%-68%) for key pinch and 52% for tripod pinch. Minnesota manipulation speed test showed satisfactory results in 92% of the patients in hand skill, strength and coordination. A decrease in fine motor skills was observed in Purdue Pegboard Test. CONCLUSION: The main treatment purposes in mutilating hand injuries are obtaining an extremity that is useful in daily activities and if possible that facilitates a return to work.

[Tendon transfers for the upper extremity in cerebral palsy]. / Spastik üst ekstremitede cerrahi tedavi: Tendon transferi uygulamalari.

Upper extremity deformities in cerebral palsy are caused by the imbalance between spastic and weak muscles acting on unstable joints. The basic goals of surgical treatment of spastic hands and upper extremities of patients with cerebral palsy can be summarized as reducing the strength of spastic muscles, strengthening the antagonist muscles, and permanent stabilization of unstable joints. Surgical techniques to achieve these goals include lengthening of spastic muscles, tendon transfers, release or plication of the joint capsule, joint arthrodesis, neurectomies, and skin procedures. Amongst these surgical treatment options, this article will present, in more detail, tendon transfers which are performed especially to achieve balance and restore motor functions.

Investigation of HSV-1, HSV-2, CMV, HHV-6 and HHV-8 DNA by real-time PCR in surgical resection materials of epilepsy patients with mesial temporal lobe sclerosis.

OBJECTIVE: The objective of this study is to investigate the presence of viral DNAs of HSV-1, HSV-2, HHV-6, HHV-8, and CMV in hippocampus of the patients with mesial temporal lobe epilepsy (MTLE) syndrome. METHODS: Pathological specimens were obtained from 33 patients with MTLE undergone temporal lobectomy with amygdalo-hippocampectomy due to intractable seizures. Autopsy materials from the hippocampus of 7 patients without neurological disease were used as controls. The data was also correlated with the clinical history of patients including febrile convulsions, age, and history of CNS infections. Real-time polymerase chain reaction method was performed for detection of DNAs of these viruses. RESULTS: HHV-6, HSV-1 and HHV-8 were detected in the hippocampus of 3, 2 and 1 patients with MTLE respectively. None of the hippocampus of patients with MTLE was positive for DNA of HSV-2 and/or CMV. Three patients with positive HHV-6 DNAs had febrile convulsions and family history for epilepsy. None of our control specimens showed PCR positivity to any of the 5 tested viruses. CONCLUSIONS: Our study is the first to report the presence of HHV-8 viral genome in the brain tissue of patient with MTLE. Viral DNAs were detected in a total of 18% of the patients in this study; we can conclude that activity of the latent virus in patients with hippocampal sclerosis should be more extensively studied to establish its role in active infection.

Sensory outcome of fingertip replantations without nerve repair.

The sensory recovery outcomes of fingertip replantations without nerve repair were retrospectively studied. Between 2000 and 2006, 112 fingertip replantations with only arterial repair were carried out in 98 patients. About 76 of the replants survived totally, with a success rate of 67.8%. Evaluation of sensory recovery was possible in 31 patients (38 replantations). Sensory evaluation was made with Semmes-Weinstein, static and dynamic two-point discrimination, and vibration sense tests. Fingertip atrophy, nail deformities, and return to work were also evaluated. According to the Semmes-Weinstein test, 29.0% (11/38) of the fingers had normal sense, 60.5% (23/38) had diminished light touch, 7.9% (3/38) had diminished protective sensation, and 2.6% (1/38) had loss of protective sensation. Mean static and dynamic two-point discriminations were 7.2 mm (3-11 mm), and 4.60 mm (3-6 mm), respectively. Vibratory testing revealed increased vibration in 42.1% of the fingers, decreased vibration in 36.8%, and equal vibration when compared with the non-injured fingers in 21.1%. Atrophy was present in 14 (36.8%) fingers and negatively affected the results. Nail deformities, cold intolerance, return to work, and the effect of sensory education were investigated. Comparison of crush and clean cut injuries did not yield any significant difference in any of the parameters. Patients who received sensory education had significantly better results in sensory testing. The results were classified as excellent, good, and poor based on results of two-point discrimination tests. The outcome was excellent in 18 fingers and good in 20 fingers. Overall, satisfactory sensory recovery was achieved in fingertip replantations without nerve repair.

[Detection and typing of human papilloma virus by polymerase chain reaction and hybridization assay in cervical samples with cytological abnormalities]. / Sitolojik atipi izlenen servikal örneklerde insan papilloma virusunun polimeraz zincir reaksiyonu ve hibridizasyon yöntemleriyle saptanmasi ve tiplendirilmesi.

Certain mucosa-tropic human papillomavirus (HPV) types are associated with carcinoma of the uterine cervix or its precursor lesions. In addition to cytological screening, early diagnosis and treatment of cervical carcinoma rely on sensitive detection and typing of HPV isolates. In this study, HPV detection and typing were performed in the cervical samples of patients with abnormal cytological evaluation. Forty randomly-selected cervical samples that comprise 18 ASC-US (Aypical Squamous Cells of Undetermined Significance), four AG-US (Aypical Glandular cells of Undetermined Significance), one ASC-H (Atypical Squamous Cells-can not exclude HSIL), one HSIL (High-grade Intraepithelial Lesion), 14 LSIL (Low-grade Intraepithelial Lesion), one adenocarcinoma and one squamous cell carcinoma, obtained by a commercial liquid-based cytology system (ThinPrep Pap Smear Method, Cytyc, USA), were included to the study. HPV-DNA detection were accomplished by L1 in-house polymerase chain reaction (PCR) performed using MY09/11 and GP5/6 primers along with a commercial real-time PCR (HeliosisTM HPV LC PCR Kit; Metis Biotechnology, Turkey) that detects HPV infections and HPV-16 via melting curve analysis. A commercial PCR-array hybridization test (Rapid HPV Genotyping MacroArray; HybriBio Inc, Hong Kong) that can identify 21 low and high risk HPV types was employed for typing. Viral DNA was detected in 35% (14/40) and 57.5% (23/40) of the samples by MY09/11 and GP5/6 primers, respectively. All in-house PCR positive samples were also positive in the real-time PCR assay. PCR-array hybridization assay provided typing results in 95.6% (22/23) of the PCR positive samples while one LSIL sample could not be typed by any of the methods used. High risk HPV types 16, 18, 31, 45, 52, 56, 58, 59,68 (65.8%); probable high risk type 53 (13.2%), low risk types 6, 42 and 81 (21%) were identified out of a total of 38 HPV isolates. Multiple infections with more than one HPV type were identified in 45.5% (10/22) of positive samples. High/probable high risk types were detected in all single infections and all low risk isolates were present in multiple infections. HPV-16 was identified in 31.8% (7/22) by real-time PCR and in 45.5% (10/23) of positive samples by PCR-array hybridization assay. HPV-16 was observed to be the most frequently detected type (10/22, 45.5%), followed by types 53 and 81 (5/22, 22.7%); 68 (4/22, 18.2%); type 58 (3/22; 13.6%); types 31, 42 and 59 (2/22; 9.1%) and others (1/22, 4.5%). As a result our data have indicated the abundance of high risk HPV isolates and infections with multiple HPV types in that specific area.

[Replantation of the ear without microvascular anastomosis: a case report]. / Mikrocerrahi uygulanmayan kulak replantasyonu: Olgu sunumu.

A 42-year-old man presented with a left-sided supralobular total ear amputation resulting from an occupational accident. Initial dissection of the amputated ear revealed no suitable vessel for anastomosis. The fenestrated cartilage with its posterior skin excised was attached as a composite graft. Four days postoperatively, it was observed that 90% of the graft was viable. Three weeks later, subtotal separation of the ear (80%) was performed combined with skin grafting for surfacing the postauricular defect. At one-year follow-up, there was partial cartilage resorption with pigmentation and minimal hyperemia of the overlying skin.

Renin-angiotensin system expression in the K562 human erythroleukaemic cell line.

Local renin-angiotensin system (RAS) may affect leukaemic cell production within the bone marrow microenvironment. Angiotensin-converting enzyme (ACE), renin, and angiotensin could influence leukaemogenesis. In this study, mRNA expressions of the major RAS components (ACE, renin, and angiotensinogen) in K562 human erythroleukaemia cell line have been searched by Real Time quantitative polymerase chain reaction. K562 blasts are multipotential, haematopoietic malignant cells that spontaneously differentiate into recognisable progenitors of the erythrocyte, granulocyte and monocytic series. We observed significant expressions of ACE, renin, and angiotensinogen in K562 leukaemic blast cells. Therefore, K562 human erythroleukaemia cell line may serve as an in vitro model to elucidate the role of RAS in leukaemia and to test the effects of RAS-affecting drugs on leukaemic cellular proliferation.

Overexpression of the local bone marrow renin-angiotensin system in acute myeloid leukemia.

OBJECTIVES: Local bone marrow renin-angiotensin system (RAS) is an autocrine-paracrine system affecting hematopoiesis. Angiotensin II stimulates the proliferation of bone marrow and umbilical cord blood hematopoietic progenitors. Angiotensin-converting enzyme (ACE) hyperfunction may lead to the acceleration of negative hematopoietic regulator peptide, AcSDKP, metabolism, which in turn lowers its level in the bone marrow microenvironment, finally removing the antiproliferative effect of AcSDKP on the hematopoietic cells and blasts. The aim of this study is therefore to search those major RAS components simultaneously in the leukemic blast cells taken from the bone marrow of patients with acute myeloid leukemia (AML). METHODS: Bone marrow aspiration materials were obtained from 10 patients with AML (8 males, 2 females; median age 48.5 years) and 8 patients with nonmalignant hematological disorders (6 males, 2 females; median age 45 years). EDTA-treated bone marrow samples were stored at -70 degrees C until analysis. Total RNA was extracted from 200-microl bone marrow samples by High Pure RNA Isolation Kit. RESULTS: The medians of expression ratios of AML patient samples have been found 0.736 (IQR 1.359), 0.540 (IQR 0.725), and 0.075 (IQR 0.002) for ACE, ANG and REN genes, respectively. All three gene expressions were found to be significantly higher in the bone marrow samples of AML patients. CONCLUSION: In this study, the expression of the mRNAs of the major RAS components-namely ACE, renin and angiotensinogen-in human bone marrow samples were quantified by reverse transcription-polymerase chain reaction (RT-PCR) to confirm the presence of the local bone marrow RAS. Elucidation of the pathological activity of the local RAS-mediated regulation of the leukemogenesis is both pathobiologically and clinically important, since the angiotensin peptides represent a molecular target in the disease management.

Prevalence of Helicobacter pylori in symptomatic patients and detection of clarithromycin resistance using melting curve analysis.

UNLABELLED: Abstract. BACKGROUND: Clarithromycin is often a component of combination therapies for Helicobacter pylori eradication; however, increases in resistance rates have decreased the success of the treatment. OBJECTIVE: This study was designed to determine the prevalence of H pylori infection in symptomatic patients and to detect clarithromycin resistance rates using melting curve analysis. METHODS: Patients scheduled for upper endoscopy at the Endoscopy Unit of the Department of Gastroenterology, Duzce University, Medical Faculty Hospital, Konuralp/Duzce, Turkey, were assessed for enrollment in the study. Two pairs of gastric biopsy specimens (antrum and corpus) were obtained from each study patient. Histopathologic examination, rapid urease test, culture, and polymerase chain reaction (PCR) of the specimens were used to identify H pylori infection. Clarithromycin resistance was detected using melting curve analysis. RESULTS: Seventy-five patients (41 women, 34 men; mean [SD]age, 42.6 [14.5] years [range, 17-70 years]) were included in the study. Using histopathology and rapid urease test, H pylori was detected in 40 (53.3%) of the 75 specimens. H pylori was detected using PCR in 40 (53.3%) specimens and by culture in 10 (13.3%) specimens. The specificity and sensitivity of PCR and culture were interpreted by comparing them with the results of histopathologic examination and urease tests. The specificity and sensitivity of PCR were 68.6% and 72.5%, respectively, and the specificity and sensitivity of culture were 97.1% and 22.5%, respectively. Of the 40 isolates, 21 (52.5%) were susceptible to clarithromycin, 12 (30.0%) were resistant, and a mixed susceptibility pattern was detected in 7 (17.5%) specimens. H pylori isolates from 19 (79.2%) of the 24 patients who had formerly used clarithromycin showed clarithromycin resistance. CONCLUSIONS: The prevalence of H pylori infection was 53.3% for the symptomatic patients in this study, and 47.5% of the isolates showed clarithromycin resistance using melting curve analysis. The PCR-based system used in this study was accurate for the detection of H pylori infection as well as clarithromycin susceptibility testing directly in biopsy specimens.

[Human papilloma virus DNA in cervical samples with cytological abnormalities and typing of the virus]. / Sitolojik olarak anomali saptanan serviks örneklerinde insan papilloma virus DNA'sinin arastirilmasi ve virusun tiplendirilmesi.

Human Papillomavirus (HPV) infections and cervical carcinoma which is associated with certain types of the virus have been worldwide public health issue. Early diagnosis of HPV infections and the detection of viral genotypes are important for the successful treatment and prevention of cervical carcinoma. This study has been designed as a preliminary study to estimate HPV type distribution in cervical samples with cytologic abnormalities in our country. A total of 35 cervical samples which were evaluated by a commercial liquid-based cytological system, were included to the study. The presence of HPV-DNA has been searched with nested polymerase chain reaction (PCR) by using consensus primer sets of MY09/11 and GP5/6 that target L1 region of the viral genome. HPV typing was performed by direct sequencing of the amplicons. In cytologic evaluation, 14 samples were diagnosed as ASC-US (Aypical squamous cells of undetermined significance), three were ASC-H (Atypical squamous cells-cannot exclude HSIL), five were HSIL (High-grade intraepithelial lesion), seven were LSIL (Low-grade intraepithelial lesion), four were LSIL+suspected HSIL, one was AG-US (Aypical glandular cells of undetermined significance) and one was atypical cells of undefined nature. HPV-DNA was detected in 28 of the 35 (80%) samples, and sequence analysis revealed high-risk HPV types (type 16, 18, 31, 33, 45, 56, 59) in 22 (78.6%) samples, probable high-risk types (type 53) in two (7.1%) samples and low-risk types (type 6, 54, 72, 81) in four (14.3%) samples. HPV type 16 emerged as the most frequently-detected type, comprising 50% (14/18) of all samples; followed by type 18 in 10.7% (3/28) and type 53 in 7.1% (2/28) of the samples. As a result, although the number of cervical samples were relatively low, the preliminary data obtained with this study revealed the HPV type distribution, however more detailed studies are needed to elucidate the epidemiology of HPV infections in Turkey.

[Surgical restoration of drop foot deformity with tibialis posterior tendon transfer]. / Düsük ayak deformitesinin posterior tibial tendon transferi ile düzeltilmesi.

OBJECTIVES: The transfer of the tibialis posterior tendon to the paralysed tendons on the anterior aspect of the ankle not only restores the function of the paralyzed muscles, but also removes the deforming force on the medial aspect of the foot. In this study, we evaluated patients who underwent tibialis posterior tendon transfer for the treatment of drop foot. METHODS: The study included 41 patients (24 males, 17 females; mean age 32 years; range 11 to 73 years) who underwent tibialis posterior tendon transfer for drop foot. The mean duration of paralysis was 51.5 months (range 4 to 240 months). The mean preoperative drop foot angle was 30.9 degrees (range 15 to 55 degrees). The tibialis posterior tendon was first detached from its insertion and carried proximally on the crural midline, then transferred to the dorsum of the foot through the circumtibial route, where it was split into two parts. One strip was attached to the tibialis anterior tendon, and the other to the extensor hallucis longus, extensor digitorum longus, and peroneus tertius tendons. The results were evaluated according to the criteria of Carayon et al. The mean follow-up was 107.9 months (range 12 to 254 months). RESULTS: The mean postoperative active dorsiflexion was 7.6 degrees , plantar flexion was 21.8 degrees , and their sum was 30.4 degrees . The results were excellent in six feet (14.6%), good in 23 feet (56.1%), moderate in seven feet (17.1%), and poor in five feet (12.2%). CONCLUSION: Tibialis posterior tendon transfer in drop foot yields highly successful results in the restoration of active dorsiflexion and prevention of flexion deformity in the toes.

Renin-angiotensin system gene polymorphisms: association with susceptibility to Henoch-Schonlein purpura and renal involvement.

The clinical course of Henoch-Schönlein Purpura (HSP) in children is variable, with some patients having a much more rapidly progressing course than others. We investigated whether polymorphisms of the renin-angiotensin system (RAS) genes are involved in HSP. Three RAS genotypes were examined in 114 children with HSP and in 164 healthy children: the angiotensin I converting enzyme (ACE) insertion/deletion polymorphism, the M235T mutation in the angiotensinogen gene (Agt), and the A1166C in the angiotensin II type I receptor (AT1R) gene. Significant differences were observed between HSP patients and control group in the frequency of ACE and Agt genotypes (p=0.004 and p=0.003, respectively). The TT genotype of Agt gene was associated with a 3.5-fold increased risk for Henoch-Schönlein nephritis (HSN) compared with the MM/MT genotype (odds ratio, 3.5; 95% confidence interval, 1.2-10.4). There was a trend to a higher prevalence of the TT genotype of the Agt gene among patients with nephrotic range proteinuria when compared to the patients with mild proteinuria, although the difference did not reach a statistical significance. The results of this study suggest that polymorphisms of ACE gene and Agt gene likely influence the risk of developing HSP. However, among the three genes of the RAS studies, only Agt gene was associated with the susceptibility to HSN. RAS gene polymorphisms studied are not associated with the presence of nephrotic range proteinuria. Additional studies are warranted to verify the correlation between RAS gene polymorphisms and susceptibility to HSP.

Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial Mediterranean fever (FMF) patients.

BACKGROUND/AIMS: Three missense mutations clustered on the carboxyl-terminal portion of the MEFV gene (M680I, M694V, and V726A) have been observed in over 80% of affected alleles in several ethnic groups of familial Mediterranean fever patients. Several immunologic abnormalities were found both in cellular and humoral components in Mediterranean fever patients. Those observations have pointed the way for analysis of the HLA region in Mediterranean fever. We intended to compare HLA DR/DQ alleles with those major mutations in the MEFV gene in Mediterranean fever patients. METHODS: The distribution of MEFV gene mutations and HLA-DR, HLA-DQ alleles were analyzed in 40 index Turkish Mediterranean fever patients, 28 family members and 42 healthy controls. M680I, M694V, and V726A mutations were studied by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) analysis. HLA-DR and DQ allele subgroups were studied using SSP-PCR technique. RESULTS: A total of 37 (92.5%) patients in 40 Mediterranean fever index patients were found to carry one of the three missense mutations. The HLA-DR4 allele frequency was significantly higher in the Mediterranean fever patient group. When comparisons were made between Mediterranean fever mutations and HLA allele frequencies, M694V mutation with HLA DR3, DR11/5 and DR 13/6 and M680I mutation with DR7 allele subgroups were statistically significant. DQ6/1, DQ7/3, and DQ8/3 allele with M694V, DQ2 allele with M680I, and DQ6/1 with V726A mutations were also statistically significant. CONCLUSIONS: Our results indicate a relationship between some HLA-DR/DQ alleles and MEFV mutations in Mediterranean fever patients. We suggest HLA-DR/DQ alleles and their role in the pathogenesis of Mediterranean fever need further analysis and comparative studies.