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1.
J Craniofac Surg ; 32(8): e780-e783, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34727454

RESUMO

OBJECTIVES: To determine the densitometric quality of regenerated bone at the site of bone marrow and platelet-rich membrane grafting technique at unilateral alveolar cleft region using dual energy x-ray bone density scan (DEXA). METHODS: The present prospective cohort study included 16 unilateral alveolar cleft patients who were selected randomly from the outpatient maxillofacial surgery clinic and suffered from unilateral alveolar cleft. Bone marrow aspirate and platelet-rich fibrin (PRF) (bone marrow stem cells + PRF) were used as the grafting material. Six months of follow-up have been conducted for all patients' including clinical and radiographic assessments with (DEXA scan). RESULTS: Sixteen unilateral patients with a mean age of 12.56 ±â€Š1.71 years were included in the sample and the majority of patients were females with a frequency of 56.2 percent. The current research revealed no infection or wound dehiscence. After surgery, the pain and edema scores were reasonable. Our findings showed that, after 6 months of regenerative graft, the average bone mineral density of the cleft side DEXA scan value was 1.56 ±â€Š0.32 gm/cm2, compared to 1.51 ±â€Š0.488 gm/cm2 on the normal side of the noncleft scan. There was no statistically significant difference in DEXA bone mineral content measurements between the cleft and standard sides (P = 0.461). CONCLUSIONS: The bone marrow stem cells + PRF regenerative graft technique has been successfully integrated, and the DEXA scan approach for measuring regenerated grafted bone mineral content was found to be appropriate for simple and inexpensive follow-up of alveolar cleft lip patients.


Assuntos
Enxerto de Osso Alveolar , Fenda Labial , Fissura Palatina , Fibrina Rica em Plaquetas , Adolescente , Densidade Óssea , Células da Medula Óssea , Transplante Ósseo , Criança , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Feminino , Humanos , Estudos Prospectivos , Raios X
2.
Cytogenet Genome Res ; 160(3): 124-133, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32187602

RESUMO

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.


Assuntos
Anormalidades Múltiplas/genética , Trissomia/genética , Inativação do Cromossomo X/genética , Anormalidades Múltiplas/fisiopatologia , Pré-Escolar , Cromossomos Humanos Par 14/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Mosaicismo , Fenótipo , Translocação Genética/genética , Trissomia/fisiopatologia
3.
Ann Maxillofac Surg ; 13(2): 179-183, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38405550

RESUMO

Introduction: The aim of this study was to evaluate soft-tissue changes in Egyptian cleft lip/palate (CLP) patients after conservative non-surgical maxillary advancement using face mask therapy. Methods: This prospective cohort study included 20 Egyptian patients with unilateral CLP, six females and 14 males, ranging in age from 10 to 15 years and suffering from moderate maxillary deficiency. These patients had been chosen randomly from the Oro-dental Genetics Clinic at the National Research Centre, Egypt. For lateral cephalometry tracing and superimposition of pre-operative and post-treatment data, this study used Dolphin 11.0 software. Subnasal (Sn), pronasal (Pn), soft tissue pogonion (Pg), labial superior (Ls), stomion superioris (Ss), labiale inferior (Li), stomion inferioris (Si) and soft tissue Menton (Me) were the soft tissue points used in this analysis. Results: All of the cases were successful and demonstrated a positive response to the orthodontic traction. All post-operative linear measurements of the measured soft-tissue points showed statistically significant advancement (P = 0.05) except for pronasal linear measurements, which did not show a significant difference post-treatment (P = 0.84). Discussion: With the use of the face mask procedure, both upper and lower lip soft-tissue points improved significantly, but nasal points remained unchanged, requiring more management.

4.
Ann Maxillofac Surg ; 11(1): 70-74, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34522657

RESUMO

INTRODUCTION: Gummy smile (GS) is a nonesthetic condition that affects the confidence of many young people. The present study aimed to compare the results of two approaches used in the management of GS in a group of Egyptian females. MATERIALS AND METHODS: This comparative cohort study included 24 female patients aged 25-35 years, divided into two groups. Group A included patients treated with diode dental laser gingivectomy, while Group B included patients who were treated with Botox injection. The clinical assessment of the pre-and post-operative measurements of exposed gums in millimetres on an active full smile was analyzed and compared for both groups. The paired t-test was used to compare pre and post measurements in each group, and the mean difference between the groups was compared using the independent t-test. RESULTS: Group A showed instant improvement, while Group B results appeared 1 week later. The variation between preoperative and postoperative GS measurements in both groups was statistically significant. The preoperative and postoperative mean ± standard deviation was (5.17 ± 0.9 and 1.89 ± 0.5) in Group A and (4.27 ± 1.0 and 1.79 ± 1.0) in Group B. Comparison between the two groups revealed a highly significant greater mean difference of 3.27 ± 0.5 mm in Group A than Group B (P < 0.001). The findings were satisfactory in all cases of both approaches, and there were no complications. DISCUSSION: Using a diode laser to treat gummy smiles for oro-dental genetics case with gingival hypertrophy saves time and effort compared to conventional surgical techniques. Diode dental laser is a safe fast and effective method of treatment giving more superior results than Botox injection which showed a less invasive alternative temporary GS therapy that is easily guaranteed and more patient-favored.

5.
Open Access Maced J Med Sci ; 6(3): 536-539, 2018 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-29610615

RESUMO

BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement. There was no significant prenatal history, and family history was negative for congenital disabilities and genetic disorders. Clinical examination revealed macrocephaly and special facial features as prominent forehead, deformed ear pinna, hypertelorism, flat nasal tongue tie, deficient malar bone, bow-shaped upper and lower lips and dimpled chin. Orally the patient suffered from tonetie, gingival hypertrophy and dental malalignment. The orthopantomogram showed multiple impacted teeth. The physical examination revealed that the patient had deformed spine, short limbs with ectrodactyly, micropenis & hypospadias. Surgical management included correction of midface deficiency with zygomatic augmentation, closed rhinoplasty for the broad nose, lips muscles release and tongue tie relief. The patient is currently undergoing orthodontic treatment for his teeth. CONCLUSION: Improvement of facial features and a good psychological impact on the patient and his family.

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