Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population

Maternal folic acid intake in the periconceptional period is strongly related to reduction in recurrence and occurrence of birth defects involving the neural tube. Among the single nucleotide polymorphisms (SNPs) influencing the folate metabolism, the methylenetetrahydrofolate reductase (MTHFR) gene has been the one most exclusively studied. Many studies have reported significant association between MTHFR 677C>T and increased risk of neural tube defects (NTDs). Our previous study did not support this observation. The present study aimed to determine the prevalence of 1298A>C polymorphism in addition to 677C>T in the same Turkish population as a risk factor for NTDs. We genotyped case (95 offspring with NTDs, 80 mothers, 72 fathers) and control (93 healthy children) populations for MTHFR 677C>T and MTHFR 1298 A>C polymorphisms. The comparison demonstrated a significant increase in the 1298AA/677TT genotype frequency among mothers of offspring with NTDs (OR 5.23 [1.06-25.9]; p=0.067). The 677CT genotype was only 1.35 times higher than controls among mothers when 677C>T polymorphism was evaluated alone, while 677CT/1298AC in the current study demonstrated a 3.8 times increase in this risk. These observations led us to conclude that although not statistically significant, MTHFR 1298AC polymorphism might be a risk factor for the occurrence of NTDs in the Turkish population.     

Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child

Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited hematological disorder characterized by macrocytic anemia and ineffective erythropoiesis with pathognomonic morphological features that include internuclear chromatin bridges, spongy heterochromatin, and invagination of the cytoplasm into the nuclear area in erythroid precursors. Treatment of anemia with the usual hematinics is without effect and 15% of patients need chronic transfusions. Successful treatment of CDA I with interferon-alpha was noted. The authors report a patient with CDA I who had required transfusions every 2-3 months since the neonatal period and responded to recombinant interferon-alpha therapy with the findings of electron microscopic investigations.     

Stoppers in RED II distraction device: is it possible to prevent pin migration?

Distraction osteogenesis has become popular for the treatment of hypoplastic congenital craniomaxillofacial anomalies. Rigid external distraction (RED II) after Le Fort III osteotomy was shown to be a highly effective treatment for the management of midface hypoplasia. This device is used with a halo vest, which is placed at the cranial equator. Intracranial penetration of the fixation pins of the halo is one of the complications of an external distraction device. To prevent pin penetration in rigid external distraction, the authors designed polylactic acid/polyglycolic acid (PLA/PGA) plates that were circular; the plates were 0.8 cm in diameter and had 1.5-mm holes in the center, through which the tip of the pins would pass. To quantify the applied torque by manual tightening of the screws of the distraction device and to measure intraosseous cone depth created by the penetration of the conical part of the screws with and without the PLA/PGA composite stopper, first an in vitro experiment was undertaken on cadaver. Then these PLA/PGA plaques, or stoppers, were placed over the bone surfaces of the cranium of the patients where the tip of the pins press. PLA/PGA stoppers are malleable and adapt their shape to the interactive forces between bone and the pins. They act as a second barrier, and spread the pressure of the screws to larger surfaces, thus securing better stabilization. The penetration of wider portions of the screw into scalp is reduced, minimizing the scalp damage caused by the screws. Biodegradable and biocompatible PLA/PGA stoppers avoid intracranial migration of the fixation pins, especially in children.     

Microsurgical revascularization of almost totally amputated alar wing of the nose

A case of nearly complete amputation of the alar wing is presented whereby a successful arterial revascularization was accomplished using an arterial rerouting technique. Venous stasis was overcome by means of stab-wound wiping. An excellent result was obtained following complete survival of the revascularized segment. The authors conclude that microvascular revascularization should always be attempted whenever possible, even if a skin bridge is preserved in nearly complete amputations of the nose.     

Xanthogranulamatous pyelonephritis with psoas abscess: 2 cases and review of the literature

Xanthogranulomatous pyelonephritis (XGP) is a rare form of chronic pyelonephritis. With the review of the literature, we reported two cases of XPN with psoas muscle abscesses caused by Staphylococci aereus in one of the patient and Serratia mascerentes in the other. Both of the patients had renal calculus. We performed nephrectomy with psoas abscess drainage and started appropriate antibiotics, but one of the patients died of septic shock. Other patient is free of symptoms at the end of 5 years follow-up.     

TGF-beta1 neutralizing antibodies decrease the fibrotic effects of ischemic priapism

The objective of this study was to evaluate the possible role of transforming growth factor beta 1 (TGF-beta1) antibodies (ab) for the prevention of fibrotic effects of priapism in a rat model. In total, 30 adult Sprague-Dawley rats were divided into five groups. Priapism with 6 h (group 1), priapism with 6 h+ab (group 2), priapism with 24 h (group 3), priapism with 24 h+ab (group 4) and control (group 5). Priapism was induced with a vacuum erection device and a rubber band was placed at the base of the erect penis. At 1 h after the initiation of priapism, TGF-beta1 antibodies were given intracavernosaly. All rats underwent electrical stimulation of the cavernous nerve after 8 weeks. Intracavernous and systemic blood pressures were measured during the procedure. Rats in group 1 showed significantly higher (intracavernosal pressure (ICP) pressures to cavernous nerve stimulation and had higher ICP/BP ratios when compared to other groups. Similarly, histopathologic examination revealed less fibrosis in group 2, compared with the other groups. Consequently, TGF-beta1 antibodies antagonise the fibrotic effects of TGF-beta1, especially in cases with duration of priapism less than 6 h.     

A comparative study of mini-external fixation systems used to treat unstable metacarpal fractures

We compared the biomechanical properties, clinical versatility, application ease, and financial cost of 7 mini-external fixation systems used to treat unstable metacarpal shaft fractures with segmental bone loss. Attached to a maple dowel fracture model, each fixator was tested in axial compression, lateral 4-point bending, 45 degrees apex-dorsal 4-point bending, and torsion. The EBI DynaFix system had the highest overall rigidity values and was highly versatile; the Synthes/AO Mini-External Fixator had intermediate rigidity values and was the lightest system tested; the Howmedica Mini-Hoffmann fixator was substantially less rigid than all the other tested constructs but was the most versatile. Devices constructed with polymethylmethacrylate and Kirschner wires were rigid, lightweight, and inexpensive. Routine use of these devices is discouraged, however, because of unacceptable loosening at the pin-cement interface during testing and because of difficulties encountered during construction and application. None of the external fixation systems tested was superior in all the parameters analyzed.     

Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey

The medical care of patients affected by rare disorders depends heavily on experiences garnered from prior cases, including those patients evaluated by the treating physician and those published in the medical literature. The utility of published cases is wholly dependent upon accurate diagnosis of those patients. In our experience, the rate of misdiagnosis in Proteus syndrome (PS) is high. Diagnostic criteria have been published, but these criteria have not been applied consistently and were published after many case reports appeared in the literature. We reviewed 205 cases of individuals reported to have PS in the literature and three of us independently applied the diagnostic criteria to these case reports. Our initial diagnostic congruence was 97.1% (199/205); the discrepancies in six cases were easily resolved. Only 97 (47.3%) of reported cases met the diagnostic criteria for PS; 80 cases (39%) clearly did not meet the criteria; and although 28 cases (13.7%) had features suggestive of PS, there were insufficient clinical data to make a diagnosis. Reported cases that met the PS criteria had a higher incidence of premature death, and other complications (scoliosis, megaspondyly, central nervous system abnormalities, tumors, otolaryngologic complications, pulmonary cystic malformations, dental and ophthalmogic complications) compared to those in the non-Proteus group. The cases that met the criteria were more often male, which has implications for hypotheses regarding the etiology and pathophysiology of PS. We also studied the attributes that led authors to conclude the reported patients had PS when we concluded they did not. We found that two of the diagnostic criteria (disproportionate overgrowth and connective tissue nevi) were often misinterpreted. In PS, the abnormal growth is asymmetric, distorting, relentless, and occurred at a faster rate compared to the rest of the body. Furthermore, PS was associated with irregular and disorganized bone, including hyperostoses, hyperproliferation of osteoid with variable calcification, calcified connective tissue, and elongation of long bones with abnormal thinning. In contrast, non-Proteus cases displayed overgrowth that was asymmetric but grew at a rate similar to the growth found in unaffected areas of the body. Also, the overgrowth in non-Proteus cases was associated with normal or enlarged bones together with ballooning of the overlying soft tissues. Taken together, these data show that (1) PS diagnostic criteria sort individuals with asymmetric overgrowth into distinct groups; (2) individuals with PS were more likely to have serious complications; (3) PS affects more males than females; and 4) the published diagnostic criteria are useful for clinical care and research. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.     

The effect of replacement fluids and normovolaemic haemodilution on the survival of dorsal skin flaps in rats

The objective of this study is to investigate the effect of normovolaemic haemodilution (anaemia), haemoglobin level and replacement fluids on the survival of local flaps in rats. Fifty male Wistar rats were divided into four study groups and one control group (10 rats for each). In the study groups, 20% or 30% of blood was withdrawn and replaced by either Gelofusine or saline (0.9%). Single 1.5 cm x 3 cm cranially based dorsal random skin flaps consisting of skin and panniculus carnosus were elevated in all rats. No difference was determined between the control and 20% exsanguinated groups regarding flap survival area. There was a statistically significant difference between the flap survival areas of 20% exsanguinated groups and 30% exsanguinated groups. If the blood loss exceeds 30% of total volume and/or haemoglobin (Hb) level is lower than 10.72 g/dL, the risk of flap necrosis increases significantly.     

Leukocytoclastic vasculitis and renal cell carcinoma

The association of leukocytoclastic vasculitis and renal cell carcinoma has been rarely documented. We report a patient who presented with leukocytoclastic vasculitis involving the skin and was diagnosed later as renal cell carcinoma. After the nephron-sparing surgery, the vasculitic lesions disappeared. We also briefly review cases of vasculitis and renal neoplasms.