Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study.

Two common MTHFR gene polymorphisms (C677T and A1298C) have been implicated in the etiology of nonsyndromic cleft lip/palate (nsCL/P). To investigate the genotype association among nsCL/P in the Turkish population, 56 case-parent trios were recruited into the study. Genotype frequencies were compared to two groups of controls from the same population. A total of 46 case-parent trios were included in transmission disequilibrium test (TDT) analysis. The mothers of the study group had a higher frequency of 677TT genotype, with a three-fold increased risk of having nsCL/P offspring (odds ratio [OR]: 3.14, p=0.03). The combined 677CT/1298AC genotype was also common among these mothers (28%), but it did not reach statistical significance (OR: 2.27, p=0.07). TDT analysis for (C677T) T allele transmission did not reveal a significant association. In conclusion, mothers carrying 677TT genotype or with 677CT/1298AC combined genotype have increased risk of having nsCL/P offspring; therefore, higher periconceptional folic acid supplementation should be advised for decreasing the recurrence risk.

The effects of the size of liposuction cannula on adipocyte survival and the optimum temperature for fat graft storage: an experimental study.

BACKGROUND: Determining the most advantageous size of liposuction cannula and injection needles in terms of adipocyte viability could help to increase fat graft survival. When recurrent injections are necessary, storing fat tissue which is harvested during the first operation could be a practical solution if it is stored at an appropriate temperature providing the highest amount of viable fat cells. METHODS: Fat tissue was removed from the abdomen of 10 consecutive female patients by 6-, 4- and 2-mm-diameter liposuction cannulas. Fat tissue harvested with the 6mm cannula was injected through 14, 16 and 20 g needles and collected in separate tubes. An additional three tubes of fat samples were prepared from fat tissue obtained with the 6mm cannula to be stored at +4, -20 and -80 degrees C for 2 weeks. Viability of the fat grafts was evaluated by fat cell isolation with collagenase digestion and staining with supravital dye and counting adipocytes with a haemocytometer. RESULTS: The viability of fat grafts harvested with the 6mm cannula was higher than grafts obtained with smaller cannulas. The viability of fat grafts injected through 14, 16 and 20 g needles were similar to each other. The viability of fat grafts stored at +4 degrees C was similar to fresh tissue whereas freezing fat grafts caused significant loss of viable adipocytes compared to fresh tissue. CONCLUSIONS: The use of larger liposuction cannulas for fat tissue harvesting provides more viable fat grafts. A temperature of +4 degrees C could be proposed as an effective and easily available way of storing fat grafts for at least 2 weeks.

Atypical midline cleft with duplication of the metopic suture.

INTRODUCTION: In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. PURPOSE: In this report, a case of median craniofacial dysraphia is described. PATIENT: At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. CONCLUSION: The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

A case of skin necrosis as a result of cholesterol crystal embolisation.

Cholesterol crystal embolism is a multisystem disorder with a high mortality. It is usually seen following vascular surgery and long term anticoagulation therapy, but the diagnosis is often not considered. Skin manifestations are the first sign of cholesterol crystal embolism and recognition of the symptoms is a key element in early diagnosis and prevention of recurrences. We report a case who presented with acute renal failure, livedo reticularis and skin necrosis following angioplasty. Cutaneous biopsy revealed cholesterol crystals in the lumen of a vessel. Necrotic sites were treated with daily wound care and he was operated for reconstruction of tissue defects with cutaneous advancement flaps. One month after the operation healing was complete.

Patients' and surgeons' perspectives on the scar components after inferior pedicle breast reduction surgery.

BACKGROUND: Scarring is the most frequent cause of dissatisfaction both for the surgeons and for the patients in breast reduction surgery. Some of the techniques used today use the classic inverted T scar. An inverted T scar is a combination of three separate scars (periareolar, vertical, and inframammary). To the authors' knowledge, no study has investigated the cosmetic outcome of these three scar components separately. The aim of this study was to determine the surgeons' and patients' perspectives on the cosmetic outcome of these three scar components. METHODS: A total of 19 patients who had inferior pedicle reduction mammaplasties were included in the study. The patients' perspectives on their reduction mammaplasty scars and the surgeons' evaluations of scar hypertrophy, widening, and color match were assessed by Likert scales. RESULTS: Patient evaluations revealed that periareolar scars were the most pleasing, whereas the inframammary scars were the least pleasing. Surgeon evaluations revealed no significant difference in scar hypertrophy, color match, or widening for the three scar components. However, the vertical scar had a tendency to widen and the inframammary scar color tended to match poorly. CONCLUSIONS: In this study, patients were most pleased with the periareolar scars and least pleased with the inframammary scars. Surgeons need to find ways of getting rid of the inframammary scar and should also deal with vertical scar widening. Scar hypertrophy was not a problem in this patient population.