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1.
Artigo em Russo | MEDLINE | ID: mdl-33605127

RESUMO

Arthrogryposis is one of the most severe congenital orthopedic diseases, characterized by multiple joint contractures, hypoplasia or aplasia of the skeletal muscles of the extremities, as well as severe motor disorders. The use of compensatory strategies allows patients to improve the ability to self-care. OBJECTIVE: To study the compensatory strategies in children with arthrogryposis with absent of active flexion in the elbow joint and estimate their dynamic after surgical treatment. MATERIAL AND METHODS: We performed a clinical examination of 236 patients with arthrogryposis with deformities of the upper extremities due to arthrogryposis at the age of 10 months to 16 years. The examination was carried out before the operation, as well as at various times (from 1 month to 8 years) after. In 87 cases (67 patients), restoration of active elbow flexion was performed by transposition of latissimus dorsii or pectoralis major to the biceps position. The activity of the muscles involved that most commonly used in compensatory strategies (synergy of m. biceps brachii and m. deltoideus or m.biceps brachii and m. quadriceps femoris) in 10 patients (from 3 to 10 y.o.), was evaluated before and after (from 2 months to 2 years) surgery by surface electromyography. RESULTS: It was found that children's compensatory strategies are formed at the age of 6 months to 1 y.o.6 months after surgery, the using of compensatory strategies becomes more rare, and 12-18 months after surgery, when the strength of the forearm muscles was 4 points, they were not used at all. CONCLUSIONS: Compensatory strategies in children with the absence of active and preservation of passive flexion in the elbow joint are diverse. They depend on the amplitude of passive and active movements in the shoulder, the function of the hand and deformities of the lower extremities. These strategies in children with arthrogryposis are unstable and completely disappear when active movements in the elbow joint are restored in the functional range.


Assuntos
Artrogripose , Articulação do Cotovelo , Criança , Articulação do Cotovelo/cirurgia , Humanos , Lactente , Músculo Esquelético , Músculos Peitorais , Amplitude de Movimento Articular
2.
Handchir Mikrochir Plast Chir ; 53(1): 31-39, 2021 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-33588494

RESUMO

BACKGROUND: In cases of anterior interosseous nerve (AIN) syndrome, it is often difficult to differentiate between compression neuropathy and neuritis. MATERIAL AND METHODS: This review analyses the clinical aspects of the neuritic AIN syndrome and the different diagnostic tools for securing the diagnosis and differentiating the condition from compression neuropathy. Based on these data, the current therapeutic options are proposed. RESULTS: The AIN syndrome often results from neuritis of the AIN fascicles within the trunk of the median nerve. The differentiation between neuritis and compression neuropathy of the AIN is based on dedicated neurophysiological examinations as well as nerve sonography and MRI neurography. Although conservative treatment is the gold standard, microsurgical interventions have become more important in recent years. CONCLUSION: A dedicated diagnostic workup of the AIN syndrome is paramount for optimal treatment. Conservative treatment remains the standard to date. However, if torsions and constrictions of nerve fascicles are detected, intrafascicular neurolysis should be considered, as current research shows the potential for an improved outcome in such cases.


Assuntos
Artrogripose , Neuropatia Hereditária Motora e Sensorial , Síndromes de Compressão Nervosa , Neurite (Inflamação) , Humanos , Nervo Mediano , Síndromes de Compressão Nervosa/diagnóstico , Neurite (Inflamação)/diagnóstico
3.
Am J Occup Ther ; 75(1): 7501205110p1-7501205110p10, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33399059

RESUMO

IMPORTANCE: Children with arthrogryposis multiplex congenita are often delayed in their development of reaching and object exploration, which can place them at risk for associated delays in motor and cognitive development. OBJECTIVE: To evaluate the longitudinal assistive and rehabilitative effects of the Playskin Lift™ (hereinafter Playskin), a novel exoskeletal garment, on reaching and object exploration abilities in children with arthrogryposis. DESIGN: Single-case ABA design with a 1-mo baseline, 4-mo intervention, and 1-mo postintervention. SETTING: Home environment. PARTICIPANTS: Seventeen children with arthrogryposis (ages 6-35 mo at first visit; 5 boys). INTERVENTION: Participants used the Playskin daily for 30 to 45 min while participating in structured intervention activities to encourage reaching for objects across play spaces larger than they were typically able to. OUTCOMES AND MEASURES: Participants were tested biweekly throughout the study with and without the Playskin using a systematic reaching assessment. Coding of reaching and object exploration behavior was performed using OpenSHAPA software; statistical analyses were conducted using Hierarchical Linear and Nonlinear Modeling software. Feasibility of the Playskin for daily home intervention was evaluated with a parent perception questionnaire. RESULTS: Positive assistive effects (improved performance when wearing the Playskin within sessions) and rehabilitative effects (improved independent performance after the Playskin intervention) were observed with increased active range of motion, expanded reaching space, improved grasping with the ventral side of the open hand, and greater complexity and multimodality and intensity of object exploration. CONCLUSIONS AND RELEVANCE: The Playskin may be a feasible, effective assistive and rehabilitative device to advance object interaction and learning in young children with arthrogryposis. WHAT THIS ARTICLE ADDS: The novel exoskeletal Playskin garment improves reaching and object exploration in young children with arthrogryposis.


Assuntos
Artrogripose , Adolescente , Adulto , Criança , Pré-Escolar , Vestuário , Comportamento Exploratório , Mãos , Força da Mão , Humanos , Masculino , Adulto Jovem
4.
Artigo em Chinês | MEDLINE | ID: mdl-33040498

RESUMO

Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systematic audiology tests were carried out in the family members, and they were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 139 known deafness genes and 6 mitochondrial DNA mutations associated with hearing loss. Result:This family's hearing loss was consistent with autosomal dominant nonsyndromic hearing loss. The affected family members appeared to have developed a high-frequency hearing loss with the onset of twenties. We identified a heterozygous missense mutation, c.418A>G/p. Thr140Ala in the CEACAM16 gene, segregating with the deafness in this family. Conclusion:In this study, we identified a new mutation of CEACAM16 gene, which was the second mutation identified in Chinese hearing loss population. It has enriched the mutation spectrum of this gene.


Assuntos
Artrogripose , Surdez , Moléculas de Adesão Celular , Surdez/genética , Humanos , Mutação , Linhagem
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 1025-1028, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820522

RESUMO

OBJECTIVE: To provide genetic testing and prenatal diagnosis for a woman with Sheldon-Hall syndrome. METHODS: The woman was subjected to targeted capture and next-generation sequencing for variant of genes associated with skeletal disorders. And the result was verified in her parents and fetus. RESULTS: The woman was found to harbor a c.188G>A variant of the TNNT3 gene, which was also found in her affected mother and the fetus. Her grandmother and grandmother's brother had similar manifestations, which was in line with an autosomal dominant inheritance. The same variant was not found in her father. CONCLUSION: The c.188G>A variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.


Assuntos
Artrogripose , Testes Genéticos , Diagnóstico Pré-Natal , Troponina T/genética , Artrogripose/diagnóstico , Artrogripose/genética , Feminino , Humanos , Masculino , Mutação , Linhagem , Gravidez
6.
Am J Hum Genet ; 107(2): 293-310, 2020 08 06.
Artigo em Inglês | MEDLINE | ID: mdl-32707087

RESUMO

We identified ten persons in six consanguineous families with distal arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare variants (c.470G>T [p.Cys157Phe] or c.469T>C [p.Cys157Arg]) affecting the same residue of myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF). In a seventh family, a c.487G>A (p.Gly163Ser) variant in MYLPF arose de novo in a father, who transmitted it to his son. In an eighth family comprised of seven individuals with dominantly inherited DA, a c.98C>T (p.Ala33Val) variant segregated in all four persons tested. Variants in MYLPF underlie both dominant and recessively inherited DA. Mylpf protein models suggest that the residues associated with dominant DA interact with myosin whereas the residues altered in families with recessive DA only indirectly impair this interaction. Pathological and histological exam of a foot amputated from an affected child revealed complete absence of skeletal muscle (i.e., segmental amyoplasia). To investigate the mechanism for this finding, we generated an animal model for partial MYLPF impairment by knocking out zebrafish mylpfa. The mylpfa mutant had reduced trunk contractile force and complete pectoral fin paralysis, demonstrating that mylpf impairment most severely affects limb movement. mylpfa mutant muscle weakness was most pronounced in an appendicular muscle and was explained by reduced myosin activity and fiber degeneration. Collectively, our findings demonstrate that partial loss of MYLPF function can lead to congenital contractures, likely as a result of degeneration of skeletal muscle in the distal limb.


Assuntos
Artrogripose/genética , Músculo Esquelético/patologia , Anormalidades Musculoesqueléticas/genética , Mutação/genética , Cadeias Leves de Miosina/genética , Adolescente , Sequência de Aminoácidos , Animais , Criança , Contratura/genética , Extremidades/patologia , Feminino , Humanos , Masculino , Miosinas/genética , Linhagem , Adulto Jovem , Peixe-Zebra/genética
7.
Am J Hum Genet ; 107(1): 34-45, 2020 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-32497488

RESUMO

IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing of three heterozygous mutations in SREBF1 in 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. SREBF1 encodes sterol regulatory element-binding protein 1 (SREBP1), which promotes the transcription of lipogenes involved in the biosynthesis of fatty acids and cholesterols. This process requires cleavage of SREBP1 by site-1-protease (S1P) and S2P and subsequent translocation into the nucleus where it binds to sterol regulatory elements (SRE). The three detected SREBF1 mutations caused substitution or deletion of residues 527, 528, and 530, which are crucial for S1P cleavage. In vitro investigation of SREBP1 variants demonstrated impaired S1P cleavage, which prohibited nuclear translocation of the transcriptionally active form of SREBP1. As a result, SREBP1 variants exhibited significantly lower transcriptional activity compared to the wild-type, as demonstrated via luciferase reporter assay. RNA sequencing of the scalp skin from IFAP-affected individuals revealed a dramatic reduction in transcript levels of low-density lipoprotein receptor (LDLR) and of keratin genes known to be expressed in the outer root sheath of hair follicles. An increased rate of in situ keratinocyte apoptosis, which might contribute to skin hyperkeratosis and hypotrichosis, was also detected in scalp samples from affected individuals. Together with previous research, the present findings suggest that SREBP signaling plays an essential role in epidermal differentiation, skin barrier formation, hair growth, and eye function.


Assuntos
Artrogripose/genética , Mutação/genética , Proteína de Ligação a Elemento Regulador de Esterol 1/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Regulação da Expressão Gênica/genética , Humanos , Ceratose/genética , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Adulto Jovem
8.
Pesqui. vet. bras ; 40(6): 426-429, June 2020. ilus
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1135648

RESUMO

Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)


Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)


Assuntos
Animais , Bovinos , Artrogripose/patologia , Artrogripose/veterinária , Doenças dos Bovinos/congênito , Uruguai , Atrofia Muscular/veterinária
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(6): 661-664, 2020 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-32472547

RESUMO

OBJECTIVE: To investigate the clinical and genetic features of a Chinese girl featuring mental retardation, intellectual disability, language development delay and epilepsy. METHODS: G-banded chromosomal karyotyping was carried out for the child. Genomic DNA of the patient and her parents was extracted and subjected to high-throughput sequencing. The results were analyzed with bioinformatic tools and validated by Sanger sequencing. RESULTS: The karyotype of the child was ascertained as 46,XX. Sequencing result showed that she has carried a de novo heterozygous c.1861C>T (p.R621X) variant of the SYNGAP1 gene. CONCLUSION: The nonsense variant c.1861C>T (p.R621X) of the SYNGAP1 gene probably underlies the disease in this child. Above result has enabled genetic diagnosis and counseling for her family.


Assuntos
Artrogripose , Deficiência Intelectual , Criança , Deficiências do Desenvolvimento , Feminino , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Proteínas Ativadoras de ras GTPase/genética
11.
J Craniofac Surg ; 31(4): 1063-1069, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32149971

RESUMO

Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Since publication of the genotype-correlated clinical diagnostic criteria, no complete survey of the literature has been accomplished. As part of the clinical practice guideline development, we evaluate diagnostic accuracy for FBS from 1938 to 2019 and range of findings, complications, treatments, and outcomes. Published manuscripts in PubMed, Google Scholar, and OMIM describing cases with a reported diagnosis of FBS, Sheldon-Hall syndrome, and distal arthrogryposes type 1 and 3 are initially included. Articles with sufficient case-level data for diagnosis verification are analyzed further. Of 724 unique papers considered, 188 papers describing 304 unique patients are included; 101 papers and 119 patients reflect an FBS diagnosis, with 80 patients meeting the full diagnostic criteria. Most cases are re-screened as distal arthrogryposis type 1. Among all cases re-screened as FBS, the presence of FBS pathognomonic craniofacial findings is not correlated with other physical findings. There are no significant differences between patients meeting the full diagnostic criteria and those not, but both are distinct from other diagnoses. Plastic surgery demonstrates the highest cumulative diagnostic accuracy for FBS overall (86.66%), while orthopedic surgery shows the lowest (44.83%). No statistically usable treatment-related or psychosocial data are available. Quality of case reports and patient data vary widely, reducing the statistical strength and significance. Major knowledge gaps exist in treatment, psychosocial, and longitudinal outcomes. At this point, it is impossible to derive clinical practice guidelines exclusively from the literature.


Assuntos
Artrogripose , Fissura Palatina , Pé Torto Equinovaro , Deformidades Congênitas da Mão , Adolescente , Adulto , Artrogripose/cirurgia , Criança , Pré-Escolar , Fissura Palatina/cirurgia , Pé Torto Equinovaro/cirurgia , Feminino , Genótipo , Deformidades Congênitas da Mão/cirurgia , Humanos , Masculino , Procedimentos Ortopédicos , Fenótipo , Adulto Jovem
14.
Hum Genet ; 139(4): 513-519, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31960134

RESUMO

Arthrogryposis multiplex congenita (AMC) is an important birth defect with a significant genetic contribution. Many syndromic forms of AMC have been described, but remain unsolved at the molecular level. In this report, we describe a novel syndromic form of AMC in two multiplex consanguineous families from Saudi Arabia and Oman. The phenotype is highly consistent, and comprises neurogenic arthrogryposis, microcephaly, brain malformation (absent corpus callosum), optic atrophy, limb fractures, profound global developmental delay, and early lethality. Whole-exome sequencing revealed a different homozygous truncating variant in SCYL2 in each of the two families. SCYL2 is a component of clathrin-coated vesicles, and deficiency of its mouse ortholog results in a severe neurological phenotype that largely recapitulates the phenotype observed in our patients. Our results suggest that severe neurogenic arthrogryposis with brain malformation is the human phenotypic consequence of SCYL2 loss of function mutations.


Assuntos
Artrogripose , Genes Recessivos , Mutação com Perda de Função , Linhagem , Proteínas Serina-Treonina Quinases/genética , Adulto , Artrogripose/diagnóstico por imagem , Artrogripose/genética , Artrogripose/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome
15.
Int J Pediatr Otorhinolaryngol ; 131: 109842, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31927149

RESUMO

OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital. RESULTS: 4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases. CONCLUSION: This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.


Assuntos
Artrite/complicações , Doenças do Tecido Conjuntivo/complicações , Perda Auditiva Neurossensorial/complicações , Síndrome de Pierre Robin/complicações , Descolamento Retiniano/complicações , Síndrome da Deleção 22q11/complicações , Adolescente , Artrogripose/complicações , Criança , Pré-Escolar , Transtornos Cromossômicos/complicações , Fissura Palatina/complicações , Pé Torto Equinovaro/complicações , Síndrome de Cornélia de Lange/complicações , Síndrome da Retração Ocular/complicações , Feminino , Deformidades Congênitas da Mão/complicações , Cardiopatias Congênitas/complicações , Humanos , Hipoventilação/complicações , Hipoventilação/congênito , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Disostose Mandibulofacial/complicações , Síndrome de Möbius/complicações , Hipotonia Muscular/complicações , Estudos Retrospectivos , Apneia do Sono Tipo Central/complicações
16.
Eur J Med Genet ; 63(1): 103624, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30690204

RESUMO

The Na+/K+- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns, kinetic properties and substrate affinity. The α2-isoform is encoded by ATP1A2 and evidence supports its utmost importance in Cl- homeostasis in neurons, and in the function of respiratory neurons at birth. Monallelic pathogenic variants in ATP1A2 are associated with familial hemiplegic migraine type 2 (FHM2) and on rare occasions with alternating hemiplegia of childhood 1 (AHC1). To date, no instances of biallelic loss of function variants have been reported in humans. However, Atp1a2 homozygous loss of function knockout mice (α2-/- mice) show severe motor deficits, with lack of spontaneous movements, and are perinatally lethal due to absent respiratory activity. In this report we describe three newborns from two unrelated families, who died neonatally, presenting in utero with an unusual form of fetal hydrops, seizures and polyhydramnios. At birth they had multiple joint contractures (e.g. arthrogryposis), microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic loss of function variants in ATP1A2, predicted to be pathogenic were found on whole exome sequencing. We propose that this is a distinctive new syndrome caused by complete absence of Na+/K+- ATPase α2-isoform expression.


Assuntos
Artrogripose/genética , Hidropisia Fetal/genética , Microcefalia/genética , Enxaqueca com Aura/genética , ATPase Trocadora de Sódio-Potássio/genética , Alelos , Animais , Artrogripose/patologia , Criança , Feminino , Predisposição Genética para Doença , Humanos , Hidropisia Fetal/patologia , Recém-Nascido , Mutação com Perda de Função/genética , Masculino , Camundongos , Microcefalia/patologia , Enxaqueca com Aura/patologia , Fenótipo , Gravidez , Isoformas de Proteínas/genética , Sequenciamento Completo do Exoma
17.
J Pediatr Orthop B ; 29(1): 53-61, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31361704

RESUMO

The study aim was to compare methods of anterior distal femoral hemiepiphysiodesis (ADFH) for treatment of fixed knee flexion deformities in ambulatory children with neuromuscular conditions and flexed knee gait. This is a retrospective review of 47 children (14 female, 33 male, age at surgery: 12.1 ± 2.7 years) who underwent ADFH between 2009 and 2016. Subjects were grouped by ADFH construct: one transphyseal screw (N = 11), two transphyseal screws (N = 28) or plates and screws (P/S group, N = 8). Clinical/radiographic variables were analyzed using paired t tests, χ tests, multiple regression and analysis of covariance. Participants experienced significant reduction in knee flexion contractures (Δ12°, P < 0.006), with no difference among groups (P = 0.43). Postoperative knee pain was significantly more prevalent in the P/S group (5/8, 63%) than the 1-SCR group (0/11, 0%) and the 2-SCR group (2/28, 7%) (P = 0.002). ADFH results in significant reduction of knee flexion deformity and improved knee extension during gait. Plate and screw constructs, the 1 and 2 transphyseal screw techniques are equally effective, but plate and screw constructs may be associated with a higher risk of persistent postoperative knee pain.


Assuntos
Artrodese/instrumentação , Artrogripose/cirurgia , Placas Ósseas , Parafusos Ósseos , Epífises/cirurgia , Articulação do Joelho/cirurgia , Amplitude de Movimento Articular/fisiologia , Artrogripose/diagnóstico , Artrogripose/fisiopatologia , Criança , Epífises/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/fisiopatologia , Masculino , Radiografia , Estudos Retrospectivos , Resultado do Tratamento , Caminhada
18.
Eur J Med Genet ; 63(3): 103756, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31513940

RESUMO

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of 30 months with mild AMC phenotype with cognitive and speech delay. On whole exome sequencing, a novel biallelic sequence variant in initiation codon of LGI4 (leucine-rich glioma-inactivated 4) gene was identified in her. Real-Time PCR revealed 50% reduction in mRNA transcript levels in subject as compared to control which explains the milder phenotype. Till date, only four families with nine affected individuals with LGI4-related AMC have been reported. Except for one child surviving up to 6 years, all others were either terminated after prenatal diagnosis or succumbed in neonatal period. This study adds to mutation spectrum of LGI4 and reports the second case of mild AMC with extended phenotype. We review the existing phenotypic and genotypic information for the individuals with this condition and highlight the intrafamilial and interfamilial variability in these individuals.


Assuntos
Artrogripose/genética , Proteínas do Tecido Nervoso/genética , Alelos , Artrogripose/fisiopatologia , Pré-Escolar , Códon de Iniciação , Consanguinidade , Feminino , Estudos de Associação Genética , Genótipo , Heterozigoto , Humanos , Masculino , Mutação , Proteínas do Tecido Nervoso/sangue , Linhagem , Fenótipo , Sequenciamento Completo do Exoma
19.
J Pediatr Orthop B ; 29(1): 62-64, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31305362

RESUMO

Knee-flexion deformity in arthrogryposis multiplex congenita is treated by serial casting into extension, distal femoral osteotomies, distal femoral-guided growth, hemiepiphysiodesis, external fixation, capsulotomy, and soft-tissue releases. We are aware of four cases treated by distal anterior femoral-guided growth with tension band plates in which an unreported complication occurred: the screws of the tension band plates penetrated the posterior cortex of the femur during remodeling with metaphyseal funnelization risking the neurovascular bundle. Inclusion criteria were cases with arthrogryposis multiplex congenita and knee-flexion deformity, treatment at our institution by distal anterior femoral-guided growth with tension band plates, and radiographic evidence of posterior cortex screw penetration during remodeling from growth. Six knees (four cases) met the inclusion criteria. The average age at the distal anterior femoral-guided growth with tension band plate operation was 5.8 years. Radiographs after 6.6 years of follow-up showed that the screws of the tension band plates, which at surgery were intrametaphyseal, had penetrated the posterior cortex of the femur. Four knees (two cases) had diffuse pain around the knee to lower leg area, and instrumentation removal alleviated the symptoms. During distal anterior femoral-guided growth with tension band plate operation for knee-flexion deformity in arthrogryposis multiplex congenita, we found that the screws of the tension band plates, which were initially located inside the metaphysis, may protrude through the posterior bone cortex during metaphyseal funnelization with growth, and may encroach upon the neurovascular tissues. Level of evidence: Level IV - case series.


Assuntos
Artrogripose/reabilitação , Placas Ósseas , Parafusos Ósseos , Regeneração Tecidual Guiada/métodos , Articulação do Joelho/cirurgia , Osteotomia/métodos , Amplitude de Movimento Articular/fisiologia , Artrogripose/diagnóstico , Artrogripose/fisiopatologia , Artrogripose/cirurgia , Pré-Escolar , Feminino , Seguimentos , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/fisiopatologia , Masculino , Radiografia , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
20.
J Pediatr Orthop B ; 29(1): 47-52, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30807513

RESUMO

The aim of this study was to examine the effectiveness of Ilizarov method in severe congenital flexion deformity of the knee. This was a retrospective study of eight consecutive bilateral cases (five girls and three boys, with mean age of 4 years, involving 16 knees) with minimum 2-year follow-up. Four patients had multiple congenital contractures and two patients each had popliteal pterygium syndrome and complete tibial hemimelia. All patients were treated with Ilizarov fixator and gradual correction (additional soft tissue releases in three knees). Six patients had bilateral foot and ankle deformity treated with the same fixator, and cases with tibial hemimelia had centralization of fibula and quadriceps reconstruction. Flexion deformity could be corrected in all cases. Mean duration of dynamic phase was 78.5 (55-108) days, that of static phase was 42.4 (7-100) days, and total duration of external fixation was 120.9 (87-186) days. At mean follow-up of 34.5 (23-60) months, flexion deformity improved from the preoperative value of 74.9° (50°-130°) to 13.7° (10°-16°), and passive arc of motion of knee improved from the preoperative value of 38.8° (20°-55°) to 83.6° (55°-110°). Both were statistically significant (P < 0.0001). All patients (previously nonambulatory) were ambulatory with brace and support. All patients faced pin-tract and skin complications that were successfully managed. Ilizarov method is effective in severe congenital flexion deformity of the knee in improving ambulatory status. Realignment of quadriceps mechanism and limb mechanical axis (including ankle and foot deformities) must be given due importance. Minor recurrences of deformity must be expected in all cases.


Assuntos
Artrogripose/cirurgia , Técnica de Ilizarov , Articulação do Joelho/anormalidades , Amplitude de Movimento Articular/fisiologia , Artrogripose/diagnóstico , Artrogripose/fisiopatologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Masculino , Radiografia , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do Tratamento
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