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1.
Article in English | MEDLINE | ID: mdl-34281069

ABSTRACT

The demand for masculinizing breast surgery and hysterectomy with bilateral salpingo-oophorectomy (HBSO) from transmen has increased. With a multidisciplinary approach, these surgeries can be performed in a single session. The objective of this study was to retrospectively evaluate the feasibility, safety, and satisfaction of HBSO and chest surgery in transmen. A cohort of 142 subjects who underwent HBSO alone or combined with chest surgery at Sant'Orsola Hospital was analyzed. Intra and post operation events were evaluated. Subjective post-intervention satisfaction, acceptability, and impact of intervention were assessed via a semi-structured interview. Nineteen transmen underwent HBSO alone and 123 underwent combined surgery. HBSO was performed laparoscopically in 96.5% of transmen (137/142). As expected, length of hospital stay and blood loss were significantly higher in the combined surgery group. A total of 13 intra or post-operative complications occurred in the combined surgery group (10.5%) with thoracic hematoma being the most frequent complication (7.6%). Only one rare complication occurred in the HBSO group (omental herniation through a laparoscopic breach). The overall subjective satisfaction score was 9.9 out of 10 for both groups. Positive changes in all areas of life were reported, with no significant differences. We found that the combined surgery appears to be well tolerated, safe, and feasible in transmen and satisfaction with the combined procedure was high in all subjects.


Subject(s)
Salpingo-oophorectomy , Transgender Persons , Feasibility Studies , Female , Humans , Hysterectomy , Personal Satisfaction , Retrospective Studies
2.
J Sex Med ; 18(3): 646-655, 2021 03.
Article in English | MEDLINE | ID: mdl-33531255

ABSTRACT

BACKGROUND: While the effects of androgens on muscle are well described in hypogonadal men, literature is still scarce on muscular strength or size variations in transmen; in this population there are no data regarding the relative effect of testosterone (T) and its metabolite dihydrotestosterone on muscle. AIM: Our primary objective was to compare the effects on muscle strength of 54-week administration of testosterone undecanoate (TU) combined with the 5α-reductase inhibitor dutasteride (DT) or placebo (PL). Secondary outcomes included evaluation of body composition, bone, cutaneous androgenic effects, and metabolic variations. METHODS: In this randomized, double-blind PL-controlled pilot trial, 16 ovariectomized transmen were randomized to receive TU 1,000 mg IM at week 0, 6, 18, 30, 42 plus a PL pill orally daily (TU + PL, n = 7) or plus DT 5 mg/d (TU + DT, n = 7). OUTCOMES: At week 0 and 54 the following parameters were evaluated: isokinetic knee extension and flexion peak torque and handgrip strength, body composition, and bone mineral density, biochemical, hematological, and hormonal parameters. RESULTS: Handgrip and lower limb strength increased significantly in both groups with no differences between the 2 groups. Fat mass decreased and lean mass increased significantly similarly in both groups. Metabolic parameters remained stable in the 2 groups except for high-density lipoprotein cholesterol that was reduced in both groups. Hepatic and renal function remained normal in both groups and no major adverse effects were registered in either group. CLINICAL IMPLICATIONS: These results may be particularly relevant for transmen experiencing cutaneous androgenic adverse events such as acne and androgenetic alopecia and in light of the development of non-5α-reduced androgens. STRENGTHS & LIMITATIONS: The strength of this study was the randomized, double-blind PL-controlled design, while the small number of subjects was definitely the biggest limitation. CONCLUSION: For the first time we demonstrated that the addition of DT does not impair the anabolic effects of T on muscles in transmen previously exposed to T, supporting the hypothesis that the conversion in dihydrotestosterone is not essential for this role. Gava G, Armillotta F, Pillastrini P, et al. A Randomized Double-Blind Placebo-Controlled Pilot Trial on the Effects of Testosterone Undecanoate Plus Dutasteride or Placebo on Muscle Strength, Body Composition, and Metabolic Profile in Transmen. J Sex Med 2021;18:646-655.


Subject(s)
Hand Strength , Metabolome , Body Composition , Double-Blind Method , Dutasteride/therapeutic use , Humans , Male , Muscle Strength , Pilot Projects , Testosterone/analogs & derivatives
3.
Adv Med Sci ; 66(1): 98-104, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33461101

ABSTRACT

PURPOSE: The aim of this study was to evaluate the effects exerted over chondrogenic commitment of human adipose-derived mesenchymal stem cells (ADSCs) by a very low oxygen tension (<1% pO2). MATERIALS/METHODS: Cell morphology, mRNA levels of chondrocyte-specific marker genes and the involvement of p38 MAPK signalling were monitored in human ADSCs under a very low oxygen tension. RESULTS: Cell morphology was significantly changed after two days of hypoxic preconditioning when they featured as elongated spindle-shaped cells. SRY-box containing gene 9, aggrecan and collagen type II mRNA levels were enhanced under severe hypoxic culture conditions. Moreover, the inhibition of p38 MAPK resulted in a substantial reduction in transcription of the above-mentioned specific genes, proving the pivotal role of this pathway in the transcriptional regulation of chondrogenesis. CONCLUSIONS: Here, we propose a protocol showing the early commitment of stem cells towards the chondrogenic phenotype in only 2 days of culture via a very low hypoxic environment, in the absence of growth factors added in the culture medium.


Subject(s)
Chondrocytes/cytology , Chondrogenesis , Gene Expression Regulation/drug effects , Mesenchymal Stem Cells/cytology , Oxygen/pharmacology , Adult , Cell Differentiation , Cell Proliferation , Cells, Cultured , Chondrocytes/drug effects , Chondrocytes/metabolism , Female , Humans , Mesenchymal Stem Cells/drug effects , Mesenchymal Stem Cells/metabolism
5.
Aesthetic Plast Surg ; 45(2): 413-420, 2021 04.
Article in English | MEDLINE | ID: mdl-33078212

ABSTRACT

BACKGROUND: Nipple areola complex (NAC) sparing mastectomy allows good oncological and aesthetic results. The study compares the results, in terms of self-evaluated satisfaction and symmetry, of direct to implant (DTI) sub-muscular breast reconstruction, with the aid of human acellular dermal matrix (ADM) versus two-stage reconstruction with sub-muscular tissue expander, followed by implant. MATERIALS AND METHODS: This is a retrospective, observational, single-center, non-randomized, case-control study. Inclusion criteria were: unilateral NAC sparing mastectomy at Forlì Hospital between 2014 and 2018; sub-muscular reconstruction; minimum follow-up of 12 months from the reconstructive stage; no history of radiotherapy. Patients were divided into two groups: group A included patients who underwent DTI breast reconstruction with the aid of human ADM; group B were those who underwent a two-stage reconstruction with tissue expander then implant. We collected data on: (1) Self-evaluated satisfaction by Breast Q questionnaire (scores from 0 to 100). (2) Observer-evaluated symmetry. Bi-dimensional photographs were collected and evaluated by 11 breast surgeons blinded to each other, who assigned a score for symmetry (from 0 to 10). (3) Symmetry of anthropometric measures collected by hand and volume estimated by Breast V application. RESULTS: Group A included 28 patients; group included B 26 patients. Breast-Q questionnaires reported the following results: satisfaction with breasts in group A 65 ± 12 versus group B 68 ± 14; satisfaction with outcome in group A 88 ± 16 versus group B 93 ± 11; psychosocial well-being in group A 71 ± 20 versus group B 76 ± 17; sexual well-being in group A 63 ± 26 versus group B 60 ± 13; physical well-being in group A 68 ± 15 versus group B 60 ± 12. The average symmetry breast score assigned to group A was 6.9, versus group B 7.2. Regarding the anthropometric measures in group A, the differences between right and left were major to those in group B. Regarding breast volume, the mean difference between right and left in group A was 31.89 cc ± 24.97, whereas in group B was 25.46 cc ± 23.59. CONCLUSION: Our data show better symmetry and better psychosocial well-being in the two-stage reconstruction, and higher satisfaction with sexual and physical well-being in DTI reconstructions. These aspects should be discussed with the patient while collecting the informed consent. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Subject(s)
Breast Implantation , Breast Implants , Breast Neoplasms , Mammaplasty , Breast Neoplasms/surgery , Case-Control Studies , Humans , Mastectomy , Nipples/surgery , Retrospective Studies , Tissue Expansion Devices , Treatment Outcome
6.
J Burn Care Res ; 41(5): 1084-1091, 2020 09 23.
Article in English | MEDLINE | ID: mdl-32227080

ABSTRACT

The rapid eschar removal by surgical debridement is currently considered the standard of care for the treatment of burned patients. However, the excision of viable dermal residues can frequently occur when this procedure is applied affecting, in turn, the possible spontaneous re-epithelialization of the lesion area and increasing the amount of autologous skin grafts required for its treatment. To overcome these problems, the use of enzymatic debridement by proteolytic enzymes enriched in Bromelain has aroused great interest in the clinical field as a valid alternative to surgical procedure for the treatment of burns when they appear of indeterminate depth. With the aim to evaluate the effectiveness of this new approach in comparison with a surgical procedure for the treatment of these types of burns we performed a retrospective data analysis taking into account patients hospitalized in our Burn Center from 2014 to 2017. The results obtained show a significant reduction in the time frame to perform debridement when an enzymatic approach is chosen, with the maintenance of viable dermal tissue on the superficial areas of the wounds, their spontaneous re-epithelialization, and a reduction of the bleeding time in the treated patients. A reduced amount of autologous skin grafts is also used when enzymatic treatment is applied. The length of stay of the patients treated with enzymatic debridement did not show significant differences compared to that treated with surgery, with excellent aesthetic results after 1 to 3 years.


Subject(s)
Bromelains/therapeutic use , Burns/therapy , Debridement , Adult , Aged , Burns/pathology , Female , Humans , Length of Stay , Male , Middle Aged , Retrospective Studies , Skin Transplantation , Time Factors , Treatment Outcome , Wound Healing
7.
J Oral Pathol Med ; 49(2): 164-168, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31715657

ABSTRACT

BACKGROUND: Craniofacial morphogenesis is the result of an intricate multistep network of tightly controlled spatial and temporal signalling that involves several molecules and transcription factors organized into highly coordinated pathways. Any alteration in even one step of this delicate process can lead to congenital malformations such as cleft palate. One of the first steps in embryonal orofacial development is the migration of cells from the neural crests to the branchial arches. Next, the cells have to proliferate, differentiate, move and connect to each other in order to correctly form the palate. Cell contraction, promoted by the interaction of non-muscle myosin II and actin A, is a crucial step in morphogenesis and is regulated by ROCK1 protein. METHODS: A family-based association study was carried out in order to verify whether or not genetic variants of ROCK1 were associated with non-syndromic cleft palate (nsCP). Two cohorts from Italy and Iran, a total of 189 nsCP cases and their parents were enrolled. RESULTS: The rs35996865-G allele was under-transmitted in cases of nsCP [P = .006, odds ratio (OR) = 0.63 (95% CI 0.45-0.88)]. CONCLUSION: This investigation reveals for the first time data supporting a role for ROCK1 in nsCP aetiology.


Subject(s)
Cleft Palate , Cleft Lip , Humans , Iran , Italy , Polymorphism, Single Nucleotide , rho-Associated Kinases
8.
Ann Plast Surg ; 84(1): 24-29, 2020 01.
Article in English | MEDLINE | ID: mdl-31633543

ABSTRACT

BACKGROUND: The goal of microsurgical breast reconstruction is to return to the precancer state, maximizing symmetry with less morbidity. This requires a long learning curve, in particular where modeling is concerned. In this context, reverse engineering technologies found an application, allowing the creation of molds that can be used during the surgery. METHOD: We created 10 molds named DIEP sizers, which help to simplify deep inferior epigastric perforator (DIEP) flap insetting. For this, we designed a virtual model using Geomagic X software to construct the sizers. Our model has a thorax circumference, breast projection, and footprint correspondent to an average of the measurements we collected from 15 patients undergoing such surgery. We made a comparative study between 2 groups each of 24 patients, using as comparison criteria surgical times in patients undergoing breast microsurgical reconstruction with or without DIEP sizers. In both groups, we included immediate and delayed reconstructions as well as monolateral, bilateral and monolateral with contralateral symmetrization. RESULT: In all the cases we performed with DIEP sizers, we achieved an average time saving of 105 minutes in monolateral reconstruction, 80 minutes in monolateral reconstruction with contralateral symmetrization, and 120 minutes in bilateral reconstruction (P < 0.001). No major complications occurred. CONCLUSIONS: We performed 24 breast reconstructions with preformed molds, obtaining a proper "library" with different DIEP sizers that can be used both in preoperative planning and in intraoperative modeling. We recommend the use of a preformed mold in microsurgical breast reconstruction to improve symmetry, to shorten the learning curve and to save time.


Subject(s)
Breast Neoplasms/surgery , Computer-Aided Design , Epigastric Arteries , Mammaplasty/methods , Microsurgery , Models, Anatomic , Perforator Flap/blood supply , Adult , Aged , Female , Humans , Middle Aged
9.
Int J Immunopathol Pharmacol ; 33: 2058738419858572, 2019.
Article in English | MEDLINE | ID: mdl-31663447

ABSTRACT

Periconceptional folic acid supplementation can reduce the risk of inborn malformations, including orofacial clefts. Polymorphisms of MTHFR, TCN2, and CBS folate-related genes seem to modulate the risk of cleft lip with or without cleft palate (CL/P) in some populations. CL/P and cleft palate only (CPO) are different malformations that share several features and possibly etiological causes. In the present investigation, we conducted a family-based, candidate gene association study of non-syndromic CPO. Three single nucleotide polymorphisms, namely, rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were investigated in a sample that included 129 Italian and 65 Asian families. No evidence of association between the three genotyped polymorphisms and CPO was found in the Italian and Asian cases, indeed the transmission disequilibrium test did not detect any asymmetry of transmission of alleles. This investigation, although with some limitation, further supports that CL/P and CPO diverge in their genetic background.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Folic Acid/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics , Asian People/genetics , Case-Control Studies , Female , Gene Frequency/genetics , Genotype , Homocystinuria/genetics , Humans , Italy , Male , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Transcobalamins/genetics
10.
Clin Oral Investig ; 22(7): 2535-2541, 2018 Sep.
Article in English | MEDLINE | ID: mdl-29374328

ABSTRACT

OBJECTIVE: Orofacial development is a complex process subjected to failure impairing. Indeed, the cleft of the lip and/or of the palate is among the most frequent inborn malformations. The JARID2 gene has been suggested to be involved in non-syndromic cleft lip with or without cleft palate (nsCL/P) etiology. JARID2 interacts with the polycomb repressive complex 2 (PRC2) in regulating the expression patterns of developmental genes by modifying the chromatin state. MATERIALS AND METHODS: Genes coding for the PRC2 components, as well as other genes active in cell differentiation and embryonic development, were selected for a family-based association study to verify their involvement in nsCL/P. A total of 632 families from Italy and Asia participated to the study. RESULTS: Evidence of allelic association was found with polymorphisms of SNAI1; in particular, the rs16995010-G allele was undertransmitted to the nsCL/P cases [P = 0.004, odds ratio = 0.69 (95% C.I. 0.54-0.89)]. However, the adjusted significance value corrected for all the performed tests was P = 0.051. CONCLUSIONS: The findings emerging by the present study suggest for the first time an involvement of SNAI1 in the nsCL/P onset. CLINICAL RELEVANCE: Interestingly, SNAI1 is known to promote epithelial to mesenchymal transition by repressing E-cadherin expression, but it needs an intact PRC2 to act this function. Alterations of this process could contribute to the complex etiology of nsCL/P.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Polymorphism, Single Nucleotide , Snail Family Transcription Factors/genetics , Alleles , Asia , Female , Genotype , Humans , Italy , Linkage Disequilibrium , Male
12.
Plast Reconstr Surg Glob Open ; 4(8): e851, 2016 Aug.
Article in English | MEDLINE | ID: mdl-27622119

ABSTRACT

The "Lull pgm system" is a closed system for purifying harvested fat. It processes the collected tissue safely without any additional cost. The system was conceived by referring to the targets described in the literature with the aim of creating a simple system that guarantees a high standard of purification and requires minimal equipment that is available in every operating room. Cost must be always considered: even the most prosperous hospitals must keep within tight annual budgets. "Lull" can be used instead of expensive devices or disposable kits, without substantially increasing the operating time. The system has been used in clinical practice for many plastic reconstructive procedures and has obtained positive results and patient satisfaction, and no contraindications or disadvantages have been observed.

13.
Aesthetic Plast Surg ; 40(4): 592-601, 2016 Aug.
Article in English | MEDLINE | ID: mdl-27251751

ABSTRACT

BACKGROUND: Eumorphic Plastic Surgery aims at improving the severe psychosocial pain caused by a deformity. Dysmorphopathology is an increasingly relevant problem facing the plastic surgeon. OBJECTIVE: The aim of this study is to describe the perioperative questionnaires created by the senior author and to present a cohort of plastic surgery patients suffering from dysmorphopathies. These patients were prospectively followed and evaluated with the proposed questionnaires through their surgical pathway to explore the degree of satisfaction or disappointment compared to expectations. METHODS: All candidates for plastic surgery procedures between April 2011 and June 2013 were included in the study. Preoperatively, all patients completed the Patient Expectation Questionnaire (E-pgm). Twelve months postoperatively, they completed the Patient Satisfaction Questionnaire (S-pgm). The E-pgm and S-pgm were compared to evaluate the consistency between the patient's preoperative expectations and postoperative evaluations. RESULTS: A total of 158 patients were included in the study. Out of them, 79 % experienced an improvement or no variation between preoperative expectations and postoperative satisfaction. With regard to the motivation for undergoing surgery, 91 % showed that the surgical procedure met the motivation. An overall positive perioperative change in life was experienced by 93 % of patients. CONCLUSIONS: The E-pgm questionnaire proved to be a valid and reliable tool for the selection of suitable candidates for surgery and for identification of dysmorphophobic patients. Enhancing the doctor-patient relationship and communication can reduce ambiguity and avoid troublesome misunderstandings, litigation and other legal implications. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Subject(s)
Body Dysmorphic Disorders/surgery , Patient Satisfaction/statistics & numerical data , Quality of Life , Surgery, Plastic/methods , Surveys and Questionnaires , Body Dysmorphic Disorders/diagnosis , Body Dysmorphic Disorders/psychology , Cohort Studies , Esthetics , Female , Humans , Italy , Male , Patient Selection , Physician-Patient Relations , Retrospective Studies , Severity of Illness Index
17.
Arch Oral Biol ; 61: 79-82, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26540672

ABSTRACT

OBJECTIVE: Orofacial clefts (OFCs) are one of the most common birth defects in humans. They are the subject of a number of investigations aimed at elucidating the bases of their complex mode of inheritance involving both genetic and environmental factors. Genes belonging to the folate pathway have been among the most studied. The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P), using three independent samples of different ancestry: from Tibet, Bangladesh and Iran, respectively. DESIGN: Specifically, the polymorphisms rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were tested. RESULTS: A decreased risk of NSCL/P was observed in patients presenting the C677T variant at MTHFR gene (relative risk for heterozygotes=0.53; 95% confidence interval [C.I.]=0.32-0.87). The investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association. CONCLUSION: Overall, these results indicate that NSCL/P risk factors differ among populations and confirm the importance of testing putative susceptibility variants in different genetic backgrounds.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Methionine Sulfoxide Reductases/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Transcobalamins/genetics , Transcription Factors/genetics , Asian People , Bangladesh , Child , Cleft Lip/ethnology , Cleft Palate/ethnology , Genetic Predisposition to Disease , Genotype , Humans , Iran , Microfilament Proteins , Polymorphism, Single Nucleotide , Tibet
18.
Surg Res Pract ; 2015: 405163, 2015.
Article in English | MEDLINE | ID: mdl-26649331

ABSTRACT

The psychological impact of breast reconstruction has widely been described, and multiple studies show that reconstruction improves the well-being and quality of life of patients. In breast reconstruction, the goal is not only the morphological result, but mainly the patient's perception of it. The objective of our study is to compare the physical and psychosocial well-being and satisfaction concerning the body image of patients who had reconstruction with breast implants to those of patients who had reconstruction with deep inferior epigastric artery perforator flaps. Our results demonstrated a similar quality of life between the two groups, but the satisfaction level was significantly higher in patients who had reconstruction with autologous tissue. Feedback from patients who have already received breast reconstruction may be useful in the decision-making process for future patients and plastic surgeons, enabling both to choose the reconstructive technique with the best long-term satisfaction.

19.
Aesthetic Plast Surg ; 38(5): 1050-6, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25099498

ABSTRACT

BACKGROUND: Obesity is increasingly frequent in our society and is associated closely with metabolic disorders. As some studies have suggested, removal of fat tissue through liposuction and dermolipectomies may be of some benefit in the improvement of metabolic indices. This article aimed to review the published literature on this topic and to evaluate metabolic variations meta-analytically after liposuction, dermolipectomy, or both. METHODS: Through a literature search with the PubMed/Medline database, 14 studies were identified. All articles were analyzed, and several metabolic variables were chosen in the attempt to meta-analyze the effect of adipose tissue removal through the various studies. All statistical calculations were performed with Review Manager (RevMan), version 5.0. RESULTS: Several cardiovascular and metabolic variables are described as prone to variations after body-contouring procedures when a significant amount of adipose tissue has been excised. Four of the studies included in the analysis reported improvements in all the parameters examined. Seven articles showed improvement in some variables and no improvement in others, whereas three studies showed no beneficial variation in any of the considered indicators after body-contouring procedures. Fasting plasma insulin was identified as the only variable for which a meta-analysis of five included studies was possible. The meta-analysis showed a statistically significant reduction in fasting plasma insulin resulting from large-volume liposuction in obese healthy women. CONCLUSION: Many beneficial metabolic effects resulting from dermolipectomy and liposuction procedures are described in the literature. In particular, fasting plasma insulin and thus insulin sensitivity seem to be positively influenced. Further research, including prospective clinical studies, is necessary for better exploration of the effects that body-contouring plastic surgery procedures have on metabolic parameters.


Subject(s)
Insulin/blood , Lipectomy , Obesity/blood , Obesity/therapy , Female , Humans , Insulin Resistance/physiology
20.
Eur J Med Genet ; 57(1): 1-4, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24361572

ABSTRACT

Studies aimed at evidencing genetic causes for neural tube defect (NTD) occurrence have often provided the inspiration for orofacial cleft aetiology investigations. The correlation between the two congenital malformations is provided by the similar incidence timing and the involvement of structures localized in the midline of the embryo. This connection is corroborated by the existence of a number of genes involved in both malformations. In this article, we considered the dihydrofolate reductase (DHFR) gene, previously seen implicated in NTDs, as a candidate for cleft lip with or without cleft palate (CL/P) risk. Four SNPs mapping on the DHFR gene were genotyped for 400 Italian CL/P triads, using TaqMan(®) approach. The rs1677693 provided evidence of association, even if at borderline level (P value 0.049). In particular, the variant allele seems to have a protective effect OR = 0.80 (95% C.I. 0.64-0.99). Moreover, the combination of rs1677693(A)-rs1650723(G) alleles showed a significant association OR 0.64 (95% C.I. 0.47-0.86) (P value = 0.006). This represents the first attempt to demonstrate a role for DHFR in CL/P aetiology, howbeit the study of such gene deserves a deepening.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Tetrahydrofolate Dehydrogenase/genetics , Case-Control Studies , Cleft Lip/enzymology , Cleft Palate/enzymology , Gene Frequency , Genetic Association Studies , Haplotypes , Humans , Linkage Disequilibrium , Polymorphism, Single Nucleotide , Risk , Sequence Analysis, DNA
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