scholarly journals Polymethyl Methacrylate (PMMA) in the Treatment of a Case of Hemifacial Microsomia

2020 ◽  
Vol 2 (1) ◽  
Author(s):  
Anália Cirqueira Milhomem ◽  
Isabella Mendes de Souza Jorge ◽  
Eduardo Luiz da Costa ◽  
Marina Clare Vinaud ◽  
Ruy de Souza Lino Júnior
Keyword(s):  
Polymethyl Methacrylate ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Late Diagnosis ◽  
Morphological Alteration ◽  
Hemifacial Microsomia ◽  
Level Of Evidence ◽  
Canine Fossa ◽  
Branchial Arches ◽  
Facial Harmony

Abstract Hemifacial microsomia (HMF) is a morphological alteration characterized by facial deformities. These alterations are a consequence of a congenital anomalous development of the first and second branchial arches. It may present a genetic or environmental origin or a mixture of both and is considered mostly multifactorial. The clinical presentation varies; however, some characteristics are predominant such as unilateral mandible hypoplasia, agenesis or malformation of the auricular pavilion, and agenesis or malformation of the eye globe. The aim of this paper was to report a clinical case of a patient with late diagnosis of HMF which presented multiple deformities and received treatment with polymethyl methacrylate (PMMA) implant in different concentrations. Aiming for facial harmony, the PMMA implant occurred in the following regions: canine fossa, nasolabial sulcus, mandible, Bichat Ball, chin outline, lip contour, nose base, columella, nose tip, and dorsum. The treatment resulted in significant improvement in the facial symmetry. Level of Evidence: 5

scholarly journals THE CLINICAL CASE OF HEMIFACIAL MICROSOMIA IN THE NEWBORN BOY FROM MOTHER WITH Z-21

2021 ◽  
Vol 11 (2(40)) ◽  
pp. 64-67
Author(s):  
I.V. Lastivka ◽  
A.G. Babintseva ◽  
V.V. Antsupova ◽  
А.І. Peryzhniak ◽  
І.V. Koshurba ◽  
...  
Keyword(s):  
Clinical Case ◽  
Septal Defect ◽  
Neonatal Period ◽  
Hemifacial Microsomia ◽  
Internal Factors ◽  
Vascular Abnormalities ◽  
Branchial Arches ◽  
The Face ◽  
The Right

Hemifacial Microsomia (HFM) is a term used to identify facial deformities associated with the development ofthe first and second pairs of branchial arches, characterized by underdevelopment of one half of the face. One typeof hemifacial microsomia is oculo-auriculo-vertebral dysplasia or Goldenhar syndrome.The incidence of HFM is 1:3500-1:7000 of live births and occurs in 1 case per 1000 children with congenitaldeafness. The ratio of boys to girls is 3:2. The etiology and type of inheritance is studied insufficiently. There are threepossible pathogenetic models: vascular abnormalities and hemorrhages in the craniofacial region, damage of Meckel'scartilage, and abnormal cell development of the cranial nerve crest. Environmental factors, maternal internal factors,and genetic factors (OTX2, PLCD3, and MYT1 mutations) may also cause the development of hemifacial microsomia.The article demonstrates a clinical case of hemifacial microsomia in a newborn boy from a mother with Z-21 inthe form of deformation of the left auricle with atresia of the auditory canal and "false" ears on the right, combinedwith congenital anomaly of heart (atrial septal defect) and brain (hypoplasia of the corpus callosum).Emphasis is placed on the need of involving a multidisciplinary team of specialists in the management of thispatient both in the neonatal period and in the system of subsequent follow-up.

Cholangiocarcinoma in pregnancy (clinical case)

2020 ◽  
pp. 19-27
Author(s):  
A. Yu. Ralnikova ◽  
V. F. Bezhenar ◽  
B. V. Arakelyan ◽  
N. A. Tatarova ◽  
M. E. Malysheva
Keyword(s):  
Pregnant Woman ◽  
Clinical Case ◽  
Clinical Observation ◽  
Late Diagnosis ◽  
Biliary Cancer ◽  
In Pregnancy

The article discusses the problems of diagnosing biliary cancer during pregnancy, proceeding under the guise of complications associated with gestation. A clinical observation of late diagnosis of cholangiocarcinoma in a pregnant woman is presented.

scholarly journals COMPLEX ORPHAN PATHOLOGY: COMORBIDITY OF MUCOVISCIDOSIS AND CONGENITAL DYSFUNCTION OF ADRENAL GLANDS CORTEX (REFERENCES REVIEW AND OWN RESEARCH)

2020 ◽  
Vol 73 (8) ◽  
pp. 1790-1795
Author(s):  
Mariana A. Ryznychuk ◽  
Vasyl P. Pishak ◽  
Тatiana V. Khmara ◽  
Nataliia V. Bachuk-Ponych ◽  
Valentyna N. Pidgirna ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Case ◽  
Adrenal Glands ◽  
Late Diagnosis ◽  
Substitution Therapy ◽  
Adrenogenital Syndrome ◽  
Mixed Form ◽  
Pathological Conditions ◽  
Appropriate Therapy ◽  
Viral Form

The aim: The clinical case was studied: comorbidity of mucoviscidosis and congenital dysfunction of adrenal glands cortex. Materials and methods: The clinical case of combined orphan pathology – cystic fibrosis and congenital dysfunction of adrenal glands cortex (adrenogenital syndrome) has been described. Clinical case: A 2-month child has been diagnosed with mucoviscidosis, of a mixed form, which was genetically confirmed. The proband and the father were found to be heterozygotes for the F508del mutation of the CFTR gene (the father suffers from mucoviscidosis). Congenital dysfunction of the adrenal glands, a viral form, was diagnosed when he was three years old. The child is currently receiving: Creon 100 000 units per day with eating, Colomycin 1 vial per day, Pulmozyme 2.5 mg/2.5 ml daily in the morning for inhalations, Ursofalk 600 mg every day constantly, Hydrocortisone 50 mg/day. Conclusions: This clinical case can be attributed to rare, as most such pathological conditions are usually diagnosed in maternity homes along with the prescription of appropriate therapy. This is an example of late diagnosis of the viral form of congenital adrenal dysfunction against the background of cystic fibrosis, indicating the need for earlier detection and timely introduction of substitution therapy to improve favourable prognosis for a disease.

scholarly journals Intestinal epithelial dysplasia

2020 ◽  
pp. 91-94
Author(s):  
T. E. Taranushenko ◽  
E. M. Vasilyeva ◽  
E. V. Antsiferova ◽  
L. N. Karpova ◽  
Y. S. Shamova
Keyword(s):  
Small Intestine ◽  
Rare Disease ◽  
Histological Examination ◽  
Mucous Membrane ◽  
Clinical Case ◽  
Clinical Presentation ◽  
Epithelial Dysplasia ◽  
Intestinal Epithelial ◽  
Electronic Microscopy

The article presents a clinical case of intestinal epithelial dysplasia (tufting enteropathy), a rare disease which relates to congenital diarrheas, has a particular clinical presentation and is life-threating. The diagnosis was confirmed by histological examination and electronic microscopy of mucous membrane of small intestine. Additional evidence is substantiated for the existence of prenatal markers of intestinal epithelial dysplasia represented as polyhydramnios and intrauterine dilatation of fetal intestinal loops. These symptoms are considered to be a clinical hallmark of sodium and chloride diarrheas and are described in single cases in enteropathy called a microvillus inclusion disease.

scholarly journals Clinical Case of Bilateral Rupture of the Patellar Tendon of the Late Diagnosis

2017 ◽  
Vol 07 (09) ◽  
pp. 235-240 ◽  
Author(s):  
Koné Samba ◽  
Dogba Eric ◽  
Nguianbanda Léandre ◽  
Kouassi Adélaide ◽  
Ledion Anicet ◽  
...  
Keyword(s):  
Patellar Tendon ◽  
Clinical Case ◽  
Late Diagnosis

Steroid osteoporosis within the framework of the Itsenko-Cushing drug syndrome: demonstration of a clinical case

2021 ◽  
Vol 7 (2) ◽  
pp. 12-16
Author(s):  
A. Fleyshman ◽  
Elena Belyaeva
Keyword(s):  
Young Patient ◽  
Clinical Case ◽  
Underlying Disease ◽  
Late Diagnosis ◽  
High Dose ◽  
Still’S Disease ◽  
Multiple Fractures ◽  
Medical Supervision ◽  
And Control

A case of severe systemic osteoporosis complicated by multiple fractures of the ribs and vertebrae in a young patient with late diagnosis of Still's disease as a result of independent long-term uncontrolled use of corticosteroids is presented. Lack of medical supervision, taking a high dose (35 mg / day) of prednisolone without recommendation and control of treatment led to untimely recognition and treatment of the underlying disease and the development of irreversible disabling transformations of the skeleton.

Titanium template for scaphoid reconstruction

2014 ◽  
Vol 40 (5) ◽  
pp. 526-533 ◽  
Author(s):  
M. Haefeli ◽  
D. J. Schaefer ◽  
R. Schumacher ◽  
M. Müller-Gerbl ◽  
P. Honigmann
Keyword(s):  
Clinical Case ◽  
Three Dimensional ◽  
Level Of Evidence ◽  
Non Union ◽  
Intraoperative Control ◽  
Operative Planning ◽  
Dimensional Shape ◽  
Template Design ◽  
Scaphoid Reconstruction ◽  
Three Dimensional Shape

Reconstruction of a non-united scaphoid with a humpback deformity involves resection of the non-union followed by bone grafting and fixation of the fragments. Intraoperative control of the reconstruction is difficult owing to the complex three-dimensional shape of the scaphoid and the other carpal bones overlying the scaphoid on lateral radiographs. We developed a titanium template that fits exactly to the surfaces of the proximal and distal scaphoid poles to define their position relative to each other after resection of the non-union. The templates were designed on three-dimensional computed tomography reconstructions and manufactured using selective laser melting technology. Ten conserved human wrists were used to simulate the reconstruction. The achieved precision measured as the deviation of the surface of the reconstructed scaphoid from its virtual counterpart was good in five cases (maximal difference 1.5 mm), moderate in one case (maximal difference 3 mm) and inadequate in four cases (difference more than 3 mm). The main problems were attributed to the template design and can be avoided by improved pre-operative planning, as shown in a clinical case. Level of evidence: V

scholarly journals Hemifacial Microsomia (HFM) and Treacher Collins Syndrome

2021 ◽  
pp. 1769-1812
Author(s):  
Manikandhan Ramanathan
Keyword(s):  
The Body ◽  
Treacher Collins Syndrome ◽  
Abnormal Development ◽  
Hemifacial Microsomia ◽  
Dentofacial Deformities ◽  
Dentofacial Deformity ◽  
Branchial Arches ◽  
Assessment And Treatment ◽  
Maxilla And Mandible ◽  
Parental Counselling

AbstractHemifacial microsomia and Treacher Collins syndrome are two entities which arise as a consequence of abnormal development of first and second branchial arches in utero. As a result, these dentofacial deformities present with abnormal facies especially the maxilla and mandible. They may also occur as part of other syndromes and may involve other structures of the body. In this chapter, we have discussed the etiology, clinical features, radiological assessment and treatment planning of such cases. Special emphasis should be made on early diagnosis, challenges of airway management and feeding and parental counselling. Since the two deformities are largely considered to be non-progressive, early distraction plays an important role in correction of the dentofacial deformity in these patients.

scholarly journals Late diagnsis of Fabry disease at the stage of cardiac involvement

2021 ◽  
Vol 28 (1) ◽  
pp. 64-67
Author(s):  
L. N. Malyugina ◽  
V. K. Lebedeva ◽  
E. A. Osipova ◽  
S. V. Moiseev ◽  
P. I. Novikov
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Clinical Manifestation ◽  
Cardiac Arrhythmias ◽  
Clinical Case ◽  
Cardiac Involvement ◽  
Late Diagnosis ◽  
Conduction Abnormalities ◽  
Classic Phenotype

A clinical case report of late diagnosis (in relation to clinical manifestation) of the classic phenotype of Fabry disease in patient with cardiac involvement: phenocopy of hypertrophy cardiomyopathy, cardiac arrhythmias and conduction abnormalities. 

scholarly journals Hemifacial Microsomia: A Mini Review

2019 ◽  
pp. 1-7
Author(s):  
Shilpa Ashok Sharma ◽  
Sayali Vikram Pagar Patil ◽  
Anupama Mudhol ◽  
Jyothi Shashidhar
Keyword(s):  
Well Being ◽  
Psychological Development ◽  
Facial Appearance ◽  
Hemifacial Microsomia ◽  
Long Term Effects ◽  
Medical Treatments ◽  
Mandibular Hypoplasia ◽  
Branchial Arches ◽  
Derivatives Of

Hemifacial Microsomia (HFM) is a congenital anomaly involving embryological derivatives of the first and second branchial arches and characterized mainly by mandibular hypoplasia and unilateral or bilateral microtia; although, other facial structures may be affected. It may have long-term effects on psychological development and social well-being, due to unaesthetic facial appearance, functional disturbances and complex medical treatments.

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