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1.
Int J Paediatr Dent ; 2024 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-39367558

RESUMO

BACKGROUND: Dental caries and molar-incisor hypomineralization (MIH) are primary reasons for the extraction of first permanent molars (M1) in children, which can lead to significant dental and facial development issues such as a midline shift and temporomandibular joint disorder. AIM: This systematic review aimed to identify key factors influencing spontaneous space closure following the early extraction of first permanent molars (M1) in children aged 5-15. DESIGN: We conducted a comprehensive search across Scopus, PubMed, Dimensions, Web of Science, and Cochrane databases, including the literature from 1960 to 2024. The inclusion criteria focused on clinical trials, case-control, cross-sectional, cohort studies, and case series that evaluated the impact of various factors on the spontaneous closure after M1 extraction. RESULTS: The analysis highlights that chronological age and the developmental stage of the second permanent molars (M2) at the time of extraction are significant predictors of successful spontaneous space closure. Additionally, the presence and angle of M2, along with the presence of third permanent molars (M3), play crucial roles but require further investigation. CONCLUSION: Early assessment of M2's developmental stage and inclination, and the presence of M3 are essential for enhancing the likelihood of successful spontaneous space closure following M1 extraction in children.

2.
Cureus ; 16(9): e69872, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39435230

RESUMO

Joubert syndrome and related disorders (JSRD) present diagnostic challenges due to their varied clinical features. Neuroimaging, particularly MRI and CT, is critical for identifying the distinctive "molar tooth sign" and other neuroanatomical abnormalities. This case report and literature review emphasize the role of neuroimaging in diagnosing JSRD. Our search targeted pediatric cases with terms like "Joubert anomaly" and "diagnostic imaging." Key findings include cerebellar vermal agenesis, ataxia, developmental delay, and oculomotor apraxia. Cognitive impairment ranges widely, complicating assessment. CT scans reveal dysplastic or absent cerebellar vermis, while MRI shows the characteristic "molar tooth" sign and additional abnormalities such as malformed cerebellar peduncles and enlarged posterior fossa. Accurate diagnosis of JSRD depends on correlating clinical symptoms with specific radiological findings. A multidisciplinary approach is vital for managing this complex disorder.

3.
JNMA J Nepal Med Assoc ; 62(272): 247-251, 2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-39356842

RESUMO

INTRODUCTION: Impacted third molars often cause pain, infections, swelling, and functional limitations. This study is an attempt to assess impacted third molars-related symptoms affecting quality of life using standardised Nepali version of oral health impact profile-14 (OHIP-14) questionnaire. METHODS: This descriptive cross-sectional study was conducted at Kathmandu Medical College Teaching Hospital from October 2021 to February 2022 after institutional ethical approval. Patients with impacted third molars were included by convenience sampling technique. Patients with psychiatric illness, taking psychotropic drugs, pregnant, and lactating females were excluded. third molars-related symptoms were recorded in OHIP-14 questionnaire. Data entered in Microsoft Excel sheet were analysed. The findings have been presented as frequency, percent, mean, and standard deviation. The point estimate was calculated at a 95% Confidence Interval. RESULTS: Mean OHIP-14 score of participants was 21.77±11.59. Due to TM, "pain in the mouth" had score of (2.33±1.24) and followed by "uncomfortable experience on eating food" (2.12±2.15). Among seven OHIP-14 dimensions, "physical pain" with two items OHIP3 and OHIP4 had score of 4.53±2.19 implying most participants had "quite a lot" of physical pain due to TM: OHIP3 = 194 (50.2%) and OHIP4 = 183 (47.3%). CONCLUSIONS: Impacted third molars-related symptoms were affecting quality of life of participants.


Assuntos
Dente Serotino , Saúde Bucal , Qualidade de Vida , Dente Impactado , Humanos , Estudos Transversais , Feminino , Nepal/epidemiologia , Masculino , Adulto , Adulto Jovem , Inquéritos e Questionários , Adolescente
4.
Cureus ; 16(8): e66648, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39258052

RESUMO

Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles. Here, we describe a case of a two-month-old female with an atypical presentation of Joubert syndrome. Her initial clinical presentation included respiratory distress and concerns for reflux complicated with aspiration pneumonia. Early recognition of clinical and radiologic findings for Joubert syndrome enables an early diagnosis, and therefore timely interventions for improving the child's development and quality of life.

6.
Am J Ophthalmol Case Rep ; 36: 102091, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-39027323

RESUMO

Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a "molar tooth sign" of the midbrain and a "batwing sign" of the fourth ventricle along with large retroorbital cysts bilaterally. The diagnosis of autosomal recessive Joubert syndrome type 6 due to homozygous pathogenic variant c.725A > G p. (Asn242Ser) in TMEM67 gene was confirmed by whole exome sequencing. Left eye had nystagmus and the left optic nerve and retina showed epipapillary and subretinal fibrosis, respectively. Scleral buckle was performed for left non-rhegmatogenous retinal detachment which then improved and has been stable. Conclusions and Importance: We present a rare case of JS with some unique ophthalmic features which expand clinical knowledge on this complex systemic and ocular entity.

7.
J Dent ; 147: 105146, 2024 08.
Artigo em Inglês | MEDLINE | ID: mdl-38914182

RESUMO

OBJECTIVES: To assess quality, clinical acceptance, time-efficiency, and consistency of a novel artificial intelligence (AI)-driven tool for automated presurgical implant planning for single tooth replacement, compared to a human intelligence (HI)-based approach. MATERIALS AND METHODS: To validate a novel AI-driven implant placement tool, a dataset of 10 time-matching cone beam computed tomography (CBCT) scans and intra-oral scans (IOS) previously acquired for single mandibular molar/premolar implant placement was included. An AI pre-trained model for implant planning was compared to human expert-based planning, followed by the export, evaluation and comparison of two generic implants-AI-generated and human-generated-for each case. The quality of both approaches was assessed by 12 calibrated dentists through blinded observations using a visual analogue scale (VAS), while clinical acceptance was evaluated through an AI versus HI battle (Turing test). Subsequently, time efficiency and consistency were evaluated and compared between both planning methods. RESULTS: Overall, 360 observations were gathered, with 240 dedicated to VAS, of which 95 % (AI) and 96 % (HI) required no major, clinically relevant corrections. In the AI versus HI Turing test (120 observations), 4 cases had matching judgments for AI and HI, with AI favoured in 3 and HI in 3. Additionally, AI completed planning more than twice as fast as HI, taking only 198 ± 33 s compared to 435 ± 92 s (p < 0.05). Furthermore, AI demonstrated higher consistency with zero-degree median surface deviation (MSD) compared to HI (MSD=0.3 ± 0.17 mm). CONCLUSION: AI demonstrated expert-quality and clinically acceptable single-implant planning, proving to be more time-efficient and consistent than the HI-based approach. CLINICAL SIGNIFICANCE: Presurgical implant planning often requires multidisciplinary collaboration between highly experienced specialists, which can be complex, cumbersome and time-consuming. However, AI-driven implant planning has the potential to allow clinically acceptable planning, significantly more time-efficient and consistent than the human expert.


Assuntos
Inteligência Artificial , Tomografia Computadorizada de Feixe Cônico , Implantação Dentária Endóssea , Planejamento de Assistência ao Paciente , Humanos , Tomografia Computadorizada de Feixe Cônico/métodos , Implantação Dentária Endóssea/métodos , Cirurgia Assistida por Computador/métodos , Mandíbula/diagnóstico por imagem , Implantes Dentários para Um Único Dente , Interface Usuário-Computador , Dente Molar/diagnóstico por imagem
10.
World J Plast Surg ; 12(2): 57-63, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38130387

RESUMO

Background: Pericoronitis is a common pathological condition related to mandibular third molar teeth (wisdom teeth). It is an inflammation of the soft tissue surrounding the crown of an erupted or partially erupted tooth that causes pain and discomfort. We aimed to investigate the relation between third molar impaction types and pericoronitis. Methods: This cross-sectional study assessed 60 patients referred to the Oral and Maxillofacial Surgery Department of Mashhad Dental School, Mashhad University of Medical Sciences, Mashhad, Iran in 2022 for totally and partially impacted mandibular third molar tooth surgery with pericoronitis. Their demographic data, including age and gender, was recorded. The impacted tooth's side and the symptoms of pericoronitis were identified using clinical examination and panoramic radiography imaging, based on the Pell & Gregory criteria and Peterson's classification. Third-molar tooth surgery was performed according to standard protocol. Patients' data were recorded and were analyzed using Excel 2019 and SPSS ver 21. Results: The prevalence of pericoronitis symptoms in women was higher than in men (P< 0.001). The Class B type of third molar teeth impaction had a relation with the majority of pericoronitis cases (P< 0.001). Pericoronitis and systemic symptoms were more likely to occur in Class II than in Class I type of third molar teeth impaction (P< 0.001). The most frequent kind of impaction linked to pericoronitis and systemic symptoms such as malaise was mesio-angular (P< 0.001). The symptoms of pericoronitis were substantially correlated with smoking (P< 0.001). Conclusion: Class B, Class II, and mesio-angular types of third molar impaction are linked with a higher risk of pericoronitis. This information might help in the early diagnosis and management of pericoronitis in patients with impacted third molar teeth.

11.
Front Vet Sci ; 10: 1306493, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38098995

RESUMO

This study evaluated the prevalence of root fusion in the right and left maxillary second molar teeth in dogs using cone-beam computed tomography (CBCT). A total of 180 dog CBCT scans, or a total of 360 maxillary second molar teeth, were analyzed in this study. Dogs were divided into weight categories of small (<10 kg), medium (10-25 kg), and large (>25 kg). Skull type (brachycephalic, mesocephalic, dolichocephalic) and sex were also recorded for each dog. Overall, 65% of maxillary second molar teeth had some type of root fusion. Of the teeth that had fusion, the only configuration represented was fusion of the distobuccal root with the palatal root. The most common root morphology overall (all dogs and both right and left maxillary second molar teeth included) was partial fusion (177/360, 49%). With the high prevalence of fused roots in maxillary second molar teeth in dogs found in this study, CBCT will help clinicians to more accurately assess a dog's anatomy and implications for treatment.

12.
J Int Med Res ; 51(10): 3000605231206294, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37910852

RESUMO

Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the "molar tooth sign" on magnetic resonance imaging. Mutations in 40 genes, including Abelson helper integration site 1 (AHI1), inositol polyphosphate-5-phosphatase (INPP5E), coiled-coil and c2 domain-containing protein 2A (CC2D2A), and ARL2-like protein 1 (ARL13B), can cause JS. Classic JS is a part of a group of diseases associated with JS, and its manifestations include various neurological signs such as skeletal abnormalities, ocular coloboma, renal disease, and hepatic fibrosis. Here, we present a proband with the molar tooth sign, ataxia, and developmental and psychomotor delays in a Dagestan family from Russia. Molecular genetic testing revealed two novel heterozygous variants, c.2924G>A (p.Arg975His) in exon 28 and c.1241C>G (p.Pro414Arg) in exon 12 of the transmembrane protein 67 (TMEM67) gene. These TMEM67 gene variants significantly affected the development of JS type 6. This case highlights the importance of whole exome sequencing for a proper clinical diagnosis of children with complex motor and psycho-language delays. This case also expands the clinical phenotype and genotype of TMEM67-associated diseases.


Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Doenças Renais Císticas , Criança , Humanos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Cerebelo/diagnóstico por imagem , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Doenças Renais Císticas/patologia , Retina/diagnóstico por imagem , Retina/patologia , Monoéster Fosfórico Hidrolases/genética , Mutação/genética , Proteínas de Membrana/genética , Proteínas de Ligação ao GTP/genética
13.
Aust Endod J ; 49(3): 614-622, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37665125

RESUMO

This CBCT-based study analysed morphometric relationships in Mesio-Buccal (MB) roots of maxillary first molars (MFM). 133 MFM with two MB canals were assessed and classified using Vertucci's classification. MB roots' length and MB1-MB2 canals inter-orifice distances (IOD) were noted. The data were analysed using SPSS software. The most frequently present canal was type IV (59.4%) followed by type II (40.6%). Mean MB roots' length for canals exhibiting type IV was 9.26 ± 0.21 mm and of those exhibiting type II was 12.8 ± 0.42 mm. Statistically significant relationship was found between MB root length and canal type. Mean IOD for type II and type IV canals was 2.4 ± 0.47 and 3.8 ± 0.21 mm, respectively. Statistically significant relationship was found between IOD and canal type. Length of MB root and IOD had a significant association with canal type present in MFM. This knowledge can enhance clinicians' understanding of canal morphology which can increase predictability and success rate of endodontic treatment.


Assuntos
Tomografia Computadorizada de Feixe Cônico Espiral , Arábia Saudita , Tomografia Computadorizada de Feixe Cônico , Maxila/diagnóstico por imagem , Raiz Dentária/diagnóstico por imagem , Raiz Dentária/anatomia & histologia , Dente Molar/diagnóstico por imagem , Dente Molar/anatomia & histologia , Cavidade Pulpar/diagnóstico por imagem , Cavidade Pulpar/anatomia & histologia
14.
Front Pediatr ; 11: 1102639, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37547106

RESUMO

Background and aims: Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically and genetically heterogeneous disorder involving mutations in more than 40 ciliopathy-related genes. However, long-term follow-up data are scarce, and further research is needed to determine the abundant phenotypes and genetics of this disorder. The study aimed to summarize clinical manifestations, particular appearance on cranial imaging, genetic data, and prognostic features of patients with JBTS. Methods: A retrospective case review of 36 cases of JBTS from May 1986 to December 2021 was performed. Clinical data of JBTS patients with development retardation and molar tooth sign on cranial imaging as the main features were analyzed. Genetic testing was performed according to consent obtained from patients and their families. The Gesell Developmental Scale was used to evaluate the intelligence level before and after treatment. The children were divided into a purely neurological JBTS (pure JBTS) group and JBTS with multi-organ system involvement group and then followed up every 3-6 months. Results: We enrolled 18 males and 18 females. Thirty-four (94.44%) cases had developmental delay, one patient (2.78%) had strabismus, and one patient (2.78%) had intermittent dizziness. There was one case co-morbid with Lesch-Nyhan syndrome. Three-quarters of cases had one or more other organ or system involvement, with a greater predilection for vision and hearing impairment. JBTS could also involve the skin. Thirty-one cases (86.11%) showed a typical molar tooth sign, and five cases showed a bat wing sign on cranial imaging. Abnormal video electroencephalogram (VEEG) result was obtained in 7.69% of cases. We found six JBTS-related novel gene loci variants: CPLANE1: c.4189 + 1G > A, c.3101T > C(p.Ile1034Thr), c.3733T > C (p.Cys1245Arg), c.4080G > A(p.Lys1360=); RPGRIP1l: c.1351-11A > G; CEP120: c.214 C > T(p.Arg72Cys). The CHD7 gene may be potentially related to the occurrence of JBTS. Analysis showed that the prognosis of pure JBTS was better than that of JBTS with neurological and non-neurological involvement after the formal rehabilitation treatment (P < 0.05). Of the three children with seizures, two cases had epilepsy with a poor prognosis, and another case had breath-holding spells. Conclusion: Our findings indicate that early cranial imaging is helpful for the etiological diagnosis of children with unexplained developmental delay and multiple malformations. Patients with JBTS may have coexisting skin abnormalities. The novel gene loci of CPLANE1, RPGRIP1l, and CEP120 were associated with JBTS in our study and provided significant information to enrich the related genetic data. Future works investigating several aspects of the association between CHD7 gene and JBTS merit further investigation. The prognosis of children with pure JBTS is better than that of children with JBTS with non-neurological involvement.

15.
Rev. Odontol. Araçatuba (Impr.) ; 44(2): 13-17, maio-ago. 2023. ilus
Artigo em Português | LILACS, BBO - odontologia (Brasil) | ID: biblio-1427972

RESUMO

Entre as perdas precoces de um elemento dental ocorre em grande frequência a do primeiro molar permanente, que normalmente tem o seu irrompimento por volta dos 6 anos de idade, e são propensos a serem acometidos por lesões cariosas que se não cuidadas precocemente pode-se levar a perda do elemento dental. Há também outros agentes que ocasionam a perda do elemento como o trauma de baixa intensidade, tais como, os cálculos dentários, os hábitos bucais deletérios e principalmente a falta de motivação de higiene oral. Diante disto, este trabalho visa a apresentação de um caso clínico de um paciente de 9 anos de idade, sem alterações sistêmicas, com grande destruição coronária no dente 26. Os exames de imagens foram colaboradores para diagnóstico e definição da extração. Foi realizada a exodontia em campo aberto. O paciente foi instruído quanto à higiene bucal e futuramente encaminhado para um tratamento ortodôntico. Conclui-se que o Cirurgião Dentista tem papel fundamental no diagnóstico e tratamento dessas alterações dentais, enfatizando a importância do tratamento restaurador de lesões cariosas precocemente, remoção de qualquer agente irritante de baixa intensidade e na motivação da higiene bucal(AU)


Among the early loss of a dental element, the loss of the first permanent molar occurs very frequently, which usually has its eruption around the age of 6 years, and they are prone to be affected by carious lesions that, if not treated early, can if it leads to loss of the dental element. There are also other agents that cause the loss of the element, such as low-intensity trauma, such as dental calculi, deleterious oral habits and especially the lack of motivation for oral hygiene. Therefore, this work aims to present a clinical case of a 9-year-old patient, without systemic alterations, with great coronary destruction in tooth 26. The imaging exams collaborated for the diagnosis and definition of the extraction. The extraction was performed in an open field. The patient was instructed about oral hygiene and later referred for orthodontic treatment. It is concluded that the Dental Surgeon has a fundamental role in the diagnosis and treatment of these dental alterations, emphasizing the importance of an early restorative treatment of carious lesions, removal of any low-intensity irritant and in the motivation of oral hygiene(AU)


Assuntos
Humanos , Masculino , Criança , Cirurgia Bucal , Dente Molar , Higiene Bucal , Cárie Dentária , Odontólogos
16.
Cureus ; 15(5): e38922, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37313100

RESUMO

A baby girl who underwent cesarean section delivery and had a complicated postnatal course requiring neonatal intensive care unit (NICU) is followed in the pediatrics clinic for several months. At five months old, the baby girl was referred to an ophthalmology clinic with brain stem and cerebellum malformation consistent with the molar tooth sign (MTS) on magnetic resonance imaging (MRI) of the brain, hypotonia, and developmental delay. She has the classic features of Joubert Syndrome (JS). Other findings not typically associated with the clinical picture of the syndrome were observed in this patient, specifically skin capillary hemangioma of the forehead. Cutaneous capillary hemangioma was an incidental finding in this JS patient and responded favorably to medical treatment with propranolol where a significant reduction in the size of the mass was observed. This incidental finding can be seen as a potential addition to the spectrum of associated findings in JS.

17.
Orphanet J Rare Dis ; 18(1): 101, 2023 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-37131188

RESUMO

BACKGROUND: The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by some authors, there is growing evidence that COMA designates merely a neurological symptom with etiologic heterogeneity. In 2016, we reported an observational study in a cohort of 21 patients diagnosed as having COMA. Thorough re-evaluation of the neuroimaging features of these 21 subjects revealed a previously not recognized molar tooth sign (MTS) in 11 of them, thus leading to a diagnostic reassignment as Joubert syndrome (JBTS). Specific MRI features in two further individuals indicated a Poretti-Boltshauser syndrome (PTBHS) and a tubulinopathy. In eight patients, a more precise diagnosis was not achieved. We pursued this cohort aiming at clarification of the definite genetic basis of COMA in each patient. RESULTS: Using a candidate gene approach, molecular genetic panels or exome sequencing, we detected causative molecular genetic variants in 17 of 21 patients with COMA. In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67. In two individuals without MTS on MRI, pathogenic variants were detected in NPHP1 and KIAA0586, arriving at a diagnosis of JBTS type 4 and 23, respectively. Three patients carried heterozygous truncating variants in SUFU, representing the first description of a newly identified forme fruste of JBTS. The clinical diagnoses of PTBHS and tubulinopathy were confirmed by detection of causative variants in LAMA1 and TUBA1A, respectively. In one patient with normal MRI, biallelic pathogenic variants in ATM indicated variant ataxia telangiectasia. Exome sequencing failed to reveal causative genetic variants in the remaining four subjects, two of them with clear MTS on MRI. CONCLUSIONS: Our findings indicate marked etiologic heterogeneity in COMA with detection of causative mutations in 81% (17/21) in our cohort and nine different genes being affected, mostly genes associated with JBTS. We provide a diagnostic algorithm for COMA.


Assuntos
Doenças Cerebelares , Anormalidades do Olho , Doenças Renais Císticas , Humanos , Doenças Cerebelares/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/patologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Doenças Renais Císticas/patologia , Retina/patologia
18.
Open Life Sci ; 18(1): 20220542, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36789003

RESUMO

Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. A 2-month-old patient with JBTS was diagnosed after clinical evaluation including family history, physical examination, cerebral MRI, ultrasonography imaging, VEGG, ocular fundus examination, and comprehensive blood and urine testing. Whole exome sequencing (WES) was performed to detect CPLANE1 variants, and Sanger sequencing was used to confirm the variants. This JBTS patient presented with oculomotor apraxia, dysregulation of breathing pattern, and ataxia. MRI revealed poor continuity of cerebelli, batwing appearance, and molar tooth sign. This patient was noted with abnormal hematology, dysregulation of hepatic function, thyroid function, immunity, and renal function, and encephalopathy. CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) variants were noticed in the patient as a pathogenic variant and caused autosomal recessive inheritance. The JBTS patient with mutations in CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) developed JBTS phenotypes. The novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant will assist clinicians and geneticists in reaching a precise diagnosis for JBTS.

19.
Clin Neurol Neurosurg ; 224: 107560, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36580738

RESUMO

OBJECTIVE: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. METHODS: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. CONCLUSION: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.


Assuntos
Anormalidades Múltiplas , Ciliopatias , Anormalidades do Olho , Doenças Renais Císticas , Humanos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Cerebelo/anormalidades , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Retina/patologia , Estudos Retrospectivos , Mutação , Ciliopatias/diagnóstico , Ciliopatias/genética , Ciliopatias/patologia , Proteínas/genética , Antígenos de Neoplasias , Proteínas do Citoesqueleto/genética , Proteínas de Ciclo Celular/genética
20.
Odontol. vital ; (37)dic. 2022.
Artigo em Espanhol | LILACS, SaludCR | ID: biblio-1422180

RESUMO

Introducción Para el diagnóstico acertado en el tratamiento de los pacientes de ortodoncia se requiere de una serie de exámenes auxiliares, que son herramientas esenciales en ortodoncia; sin embargo, encontramos cierto grado de dificultad para la valoración de asimetrías dentarias en los hemiarcos de cada arcada dentaria; la importancia de la correcta valoración de las asimetrías es ya ampliamente mencionada en diferentes estudios, porque nos ayudará con la localización co-rrecta, de los dientes en su arcada,al final del tratamiento En la actualidad existe poca literatura sobre los métodos para evaluar y diagnosticar las alteraciones por hemiarcos, especialmente en el plano transversal. Objetivo acer una revisión de literatura sobre los métodos de medición de las asimetrías dentarias intra-arco para poder identificar y cuantificar las alteraciones dentarias en los tres planos del espacio en su respectiva arcada dentaria, el Método para los términos de búsqueda de la información fueron: dental and facial asymmetry, molar asymmetry in ortho-dontics, arch width prediction indices, as well as transverse discrepancies, para tal efecto se empleó Pubmed, Medline, Scielo, Schoolar Google, de los cuales se recopilaron 80 artículos relacionados con nuestro tema de estudio y solo se eligieron 30 artículos y 6 libros de ortodoncia en los que se sustenta este artículo. Resultados En el presente artículo presentamos las herramientas con las que contamos para el diagnóstico de la asimetría dentaria intra-arcos como la placa de Sthmuch y la placa milimetrada de Korkhaus, y finalmente proponemos un método que nos permite cuantificar objetivamente la asimetría en los tres plano del espacio de una manera sencilla, reproducible y de fácil almacenaje en un computador. Conclusión La etapa del diagnóstico es importante porque permitirá obtener la mayor y mejor información de las alteraciones dentarias que presenta el paciente, siendo las alteraciones transversales las más difíciles de cuantificar por que la mayoría de los estudios e índices, ya que solo evidencian las distancias de dientes contra laterales, los cuales son datos limitados pero que aún así contribuyen en el diagnóstico, el método de la placa de Sthmuch, Korkhaus y Bernklau son propuesta para medir las asimetrías dentarias intraarcos, no en tanto es desgastador para el operador y sus resultados objetivos radica en la experiencia del operador; el método KLO nos permite cuantificar objetivamente la falta de sime-tría dentaria en cada arcada de una manera fácil, reproducible y de almacenaje en un computador o en un archivo.


Introduction The correct diagnosis in the treatment of orthodontic patients requires a series of auxiliary examinations, which are essential tools in orthodontics, however we found a certain de-gree of difficulty in assessing dental asymmetries in the hemiarchs of each dental arch; The im-portance of the correct assessment of asymmetries is already widely mentioned in different stud-ies, because it will help us with the correct location of the teeth in their arch, at the end of the treatment. Currently there is little literature on the methods to evaluate and diagnose hemiarchal alterations, especially in the transverse plane. Objective Is to review the literature on the methods of measuring intra-arch dental asymmetries in order to identify and quantify dental al-terations in the three planes of space in their respective dental arch. Method The search terms of the information were: dental and facial asymmetry, molar asymmetry in orthodontics, arch width prediction indices, as well as cross-sectional discrepancies. Pubmed, Medline, Scielo, Schoolar Google, of which 80 articles related to our study topic were collected and only 30 articles and 6 orthodontic books were chosen on which this article is based, Results Also in this article we present the tolos that we have for the diagnosis of intraarch dental asymmetry such as the Sth-much plate and the Korkhaus millimeter plate, and finally we propose a method that allows us to objectively quantify the asymmetry in the three space plan in a simple, reproducible way and easy to store on a computer. Conclusión The stage of diagnosis is important because it will allow obtain-ing the greatest and best information on the dental alterations that the patient presents, being the transversal alterations the most difficult to quantify because most studies and indices, since they only show the distances of Contralateral teeth, which are limited data but still contribute to the diagnosis, the Sthmuch, Korkhaus and Bernklau plate method are proposed to measure intra-arch dental asymmetries, not as it is wearisome for the operator and his patients. objective results lies in the experience of the operator; The KLO method allows us to objectively quantify the lack of dental symmetry in each arch in an easy, reproducible way that can be stored on a computer or in a file.


Assuntos
Modelos Dentários , Dente Molar , Assimetria Facial
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