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1.
J Pediatr Orthop ; 44(4): 267-272, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38299252

RESUMEN

BACKGROUND: Little is known about the prevalence of intraspinal pathology in children who toe walk, but magnetic resonance imaging (MRI) may be part of the diagnostic workup. The purpose of this study was to examine the role of MRI for children who toe walk with a focus on the rate of positive findings and associated neurosurgical interventions performed for children with said MRI findings. METHODS: A single-center tertiary hospital database was queried to identify a cohort of 118 subjects with a diagnosis of toe walking who underwent spinal MRI during a 5-year period. Patient and MRI characteristics were summarized and compared between subjects with a major abnormality, minor abnormality, or no abnormality on MRI using multivariable logistic regression. Major MRI abnormalities included those with a clear spinal etiology, such as fatty filum, tethered cord, syrinx, and Chiari malformation, while minor abnormalities had unclear associations with toe walking. RESULTS: The most common primary indications for MRI were failure to improve with conservative treatment, severe contracture, and abnormal reflexes. The prevalence of major MRI abnormalities was 25% (30/118), minor MRI abnormalities was 19% (22/118), and normal MRI was 56% (66/118). Patients with delayed onset of toe walking were significantly more likely to have a major abnormality on MRI ( P =0.009). The presence of abnormal reflexes, severe contracture, back pain, bladder incontinence, and failure to improve with conservative treatment were not significantly associated with an increased likelihood of major abnormality on MRI. Twenty-nine (25%) subjects underwent tendon lengthening, and 5 (4%) underwent neurosurgical intervention, the most frequent of which was detethering and sectioning of fatty filum. CONCLUSIONS: Spinal MRI in patients who toe walk has a high rate of major positive findings, some of which require neurosurgical intervention. The most significant predictor of intraspinal pathology was the late onset of toe walking after the child had initiated walking. MRI of the spine should be considered by pediatric orthopedic surgeons in patients with toe walking who present late with an abnormal clinical course. LEVEL OF EVIDENCE: Level III Retrospective Comparative Study.


Asunto(s)
Contractura , Trastornos del Movimiento , Humanos , Niño , Estudios Retrospectivos , Reflejo Anormal , Imagen por Resonancia Magnética/métodos , Caminata , Dedos del Pie/diagnóstico por imagen
2.
Foot Ankle Surg ; 29(2): 171-176, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36646596

RESUMEN

BACKGROUND: The second webspace syndrome (SWS) refers to the progressive divergence between 2nd and 3rd toes associated with pain at the second intermetatarsal space that can be confused with Morton's neuroma and treated as such without considering the underlying deformity. There is yet no consensus regarding the best treatment, from isolated soft tissue or bony procedures or a combination of both. The objective of this study was to describe the clinical characteristics of the disease, as well as to evaluate the radiological outcomes of patients with SWS treated with open Weil's osteotomy or distal metatarsal minimal invasive osteotomy (DMMO) of the second metatarsal, with main emphasis on medialization of the head in the anteroposterior plane in either procedure. METHODS: A retrospective study of all patients with SWS treated with Weil's medializing osteotomy (open and percutaneous) associated or not with other forefoot procedures, treated between 2012 and 2019, was performed. Radiological variables such as metatarsal-phalangeal angle (MTPA), percentage of metatarsal uncoverage of M2 with respect to its phalanx, intermetatarsal angle (M1, M2 and M3), length of second metatarsal and intermetatarsal distance M2 - M3 were measured and compared before and after surgery. RESULTS: Twenty-six patients were included, with a mean follow-up of 26 months. All patients presented divergence between the 2nd and 3rd toes, 75 % associated pain at the level of the second intermetatarsal space and two patients presented neuropathic symptoms. After surgery (nineteen open and seven DMMO), all patients rated their results as good or excellent, and the two patients with neuropathic symptoms had improvement in their symptoms. Regarding the radiological results, the percentage of subluxation of the second MTP decreased in a large percentage of the operated patients (from 43.3 % to 3.9 %) with statistical significance as well as the length of M2, IM angle between M1 - M2, IM distance between M2-M3 and the percentage of uncoverage of the second MTP (p < 0.001). CONCLUSION: Medial translation associated with open Weil osteotomy or DMMO seems to correct the muscle-ligament imbalance of the second metatarsophalangeal joint and restore normal radiographic measurements, especially in the coronal and sagittal plane, without the need for soft tissue procedures, as well as the resolution of associated neuropathic symptoms in some patients. LEVEL OF EVIDENCE: Level IV, retrospective case series.


Asunto(s)
Contractura , Deformidades del Pie , Enfermedades del Pie , Huesos Metatarsianos , Articulación Metatarsofalángica , Humanos , Estudios Retrospectivos , Huesos Metatarsianos/diagnóstico por imagen , Huesos Metatarsianos/cirugía , Enfermedades del Pie/etiología , Deformidades del Pie/etiología , Articulación Metatarsofalángica/cirugía , Dolor/etiología , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía , Osteotomía/métodos , Resultado del Tratamiento
3.
J Foot Ankle Surg ; 61(4): 841-844, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34973866

RESUMEN

In lateral ray polydactyly, the reconstructed toe often tends to become thicker, but no standard evaluation criteria for this thickness are available. 57 patients (68 toes) with Hirai-Togashi classification type II, III, or IV whom we were able to follow-up for more than 6 months after the operation were underwent measurement of the "Reconstructed toe width to Third toe width ratio." In addition, 16 patients who could be followed up for 3 years through the mid-term course were evaluated for mid-term progress. At 6 months after surgery, the mean R/T ratio was 1.246. In patients who could be followed up for 3 years after surgery, the mean R/T ratios at 6 months after surgery and at 3 years were significantly decreased. This result suggests that the thickness of the reconstructed toe may become relatively thin in the long term.


Asunto(s)
Polidactilia , Pie , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía
4.
J Foot Ankle Surg ; 61(3): 621-626, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34802909

RESUMEN

The treatment of postaxial polydactyly requires excision of the medial fifth or lateral sixth toe, and separation of the adjacent fourth/fifth toes if the adjacent toes exhibit skin syndactyly. Morphological changes in the retained toes and reoperation are common problems after such surgery. This study examined the effects of preoperative classifications and selecting the medial fifth or lateral sixth toe for excision on the postoperative outcomes of surgery for postaxial polydactyly. From April 2006 to March 2019, surgery for postaxial polydactyly was performed on 55 feet in 49 patients. The patients' mean age at surgery was 28.8 months. Postoperative esthetic and bone alignment scores, the reoperation rate, and postoperative dysfunction were examined. The postoperative esthetic and bone alignment evaluations were performed by examining postoperative photograph and X-ray images using original scoring systems. The surgical procedure was chosen by the surgeon-in-charge during a preoperative conference after considering the toe growth and bone alignment. In the postoperative esthetic evaluation, excising the lateral sixth toe produced significantly better outcomes than excising the medial fifth toe. The morphological classification also indicated that excising the lateral sixth toe produced better outcomes, as it resulted in the bifurcated toes being clearly independent. Interestingly, the postoperative X-ray-based bone alignment score was not correlated with the esthetic score. The reoperation rate tended to be high after medial fifth toe excision. There were no postoperative functional complications. Lateral sixth toe excision for postaxial polydactyly of the foot produces good postoperative esthetic outcomes.


Asunto(s)
Polidactilia , Dedos/anomalías , Dedos/cirugía , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos del Pie/anomalías , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía , Rayos X
5.
Pediatr Dermatol ; 38(6): 1588-1589, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34647639

RESUMEN

Double toenail is a rare abnormality that usually affects the fifth toe. It is considered as an inherited condition that may represent an incomplete form of polydactyly. Underlying bone abnormalities should be ruled out. We present a case of a double toenail of the second toe, a location that has not previously been described, with underlying bone involvement noted on ultrasound and plain films.


Asunto(s)
Uñas , Dedos del Pie , Humanos , Uñas/diagnóstico por imagen , Radiografía , Dedos del Pie/diagnóstico por imagen , Ultrasonografía
6.
Genomics ; 112(4): 2729-2733, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32147526

RESUMEN

Postaxial polydactyly (PAP) is characterized by development of extra digits, which mostly segregates in autosomal recessive pattern. The underlying genetic cause of recessive non-syndromic PAP type A has been associated with sequence variants in five different genes (ZNF141, IQCE, GLI1, FAM92A, KIAA0825). The present study was aimed to investigate clinical and genetic causes of PAPA in a consanguineous family of Pakistani origin. Microsatellite-based linkage analysis was used to search for the disease-causing gene. Linkage in the family was established at chromosome 5q15 harbouring a candidate gene KIAA0825. Subsequently, Sanger sequencing revealed a novel homozygous missense variant [c.50T>C; p. (Leu17Ser)] in the gene, which co-segregated with the disease within the family. Protein structural analysis predicted a substantial change in the secondary structure of the mutant protein affecting its function. This is the third disease causing variant identified in the KIAA0825. This has not only expanded spectrum of the mutations in the gene but also further substantiated its role in the limb development in human.


Asunto(s)
Dedos/anomalías , Péptidos y Proteínas de Señalización Intracelular/genética , Polidactilia/genética , Dedos del Pie/anomalías , Alelos , Femenino , Dedos/diagnóstico por imagen , Dedos/patología , Haplotipos , Humanos , Péptidos y Proteínas de Señalización Intracelular/química , Masculino , Mutación Missense , Polidactilia/diagnóstico por imagen , Polidactilia/patología , Conformación Proteica , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/patología
7.
Surg Radiol Anat ; 43(10): 1711-1719, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34226966

RESUMEN

PURPOSE: Using 320-detector row computed tomography angiography (320-CTA) to investigate the arterial supply for the toe flaps, namely the anatomical characteristics of the dorsalis pedis artery (DPA), the first dorsal metatarsal artery (FDMA), and the arteries of the first toe web space (AsFTWS). METHODS: This was a prospective study on CTA of 72 intact feet of 36 Vietnamese adults who had sequelae of thumb or metacarpal hand amputation, from June 2017 to December 2019, then preoperative CTA images were compared with surgical findings on 31 feet of 29 patients. RESULTS: 320-CTA was able to investigate the DPA, FDMA, and AsFTWS in 100% of cases. DPA was absent in 6.9% of cases. The average diameters at its origin and termination were 3.22 and 2.56 mm, respectively. For FDMA, the rates of Gilbert type I, II, and III were 52.8%, 18.1%, and 29.2%; the average diameters at its origin and termination were 1.98 and 1.67 mm, respectively. At the first toe web space, FDMA was dominant in 54.2% of cases; the first plantar metatarsal artery (FPMA) was dominant in 29.2% of cases; both arteries were equally dominant in 16.6%. The average diameter at the origin of the lateral plantar digital artery of the great toe was 1.48 mm, of the medial plantar digital artery of the second toe was 1.21 mm. Preoperative CTA images resembled the surgical findings in all cases. The survival rate of toe flaps was 100%. CONCLUSION: The 320-CTA provided proper preoperative images in two and three dimensions, and helped surgeons to establish a preoperative surgical plan, thus increasing the success rate of toe transfer surgery.


Asunto(s)
Angiografía por Tomografía Computarizada/métodos , Colgajos Quirúrgicos/irrigación sanguínea , Dedos del Pie/anatomía & histología , Dedos del Pie/irrigación sanguínea , Adulto , Amputación Quirúrgica , Femenino , Mano/cirugía , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Pulgar/cirugía , Dedos del Pie/diagnóstico por imagen , Vietnam , Adulto Joven
8.
Surg Radiol Anat ; 43(7): 1067-1073, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33661354

RESUMEN

PURPOSE: Selective percutaneous tenotomy of the flexor digitorum longus (FDL) is a treatment for claw toes that gives astonishingly good functional results despite tendon sacrifice. However, the involution of the FDL tendon stump after tenotomy is unknown. The aim of our study was to assess the involution of the tendon stump after selective percutaneous tenotomy of the FDL. METHODS: The study included two parts. In the clinical part, an ultrasound analysis of 15 FDL tenotomies in 7 patients was carried out 3 months post-surgery. In the anatomic part, the feet of 10 bodies donated to science were dissected and examined anatomically. RESULTS: The proximal stump of the FDL was located near the base of the proximal phalanx and moved synchronously with the flexor digitorum brevis (FDB).Separating the FDB and FDL revealed a large tissue connection between the plantar surface of the tendinous chiasm of the FDB and the dorsal part of the FDL. These connections had significant resistance ranging from 2 to 9 Newtons depending on the toe. Tenotomy of the FDL followed by proximal traction of it led to retraction of the stump up to the base of the proximal phalanx and transfer of its action to the FDB by tensioning the intertendinous structure. Histologically, these structures were mostly comprised of tendon connective tissue. Their vascular component was small. CONCLUSION: The presence of this intertendinous connection leads, in the case of isolated tenotomy of the FDL, to equivalent transfer of the latter to the FDB.


Asunto(s)
Síndrome del Dedo del Pie en Martillo/cirugía , Músculo Esquelético/anatomía & histología , Transferencia Tendinosa/métodos , Tendones/anatomía & histología , Tenotomía/métodos , Cadáver , Humanos , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/cirugía , Tendones/diagnóstico por imagen , Tendones/cirugía , Dedos del Pie/anatomía & histología , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía , Ultrasonografía
9.
J Foot Ankle Surg ; 60(3): 615-620, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33509716

RESUMEN

Closed degloving injuries are uncommon, high-energy injuries that separate the bony structures from the soft tissue and frequently result in amputation. Because the epidermis is often intact, it is difficult to visualize the extent of the soft tissue damage. Although there is no gold standard of treatment for closed degloving injuries at present, previous cases have reported that neurovascular presentation is a key predictor of amputation Herein, we report a closed degloving injury involving the second through fifth phalanges of the left foot following a crushing injury with a forklift. Despite adequate capillary refill upon initial presentation, the patient ultimately underwent transmetatarsal amputation.


Asunto(s)
Lesiones por Aplastamiento , Traumatismos de los Tejidos Blandos , Amputación Quirúrgica , Humanos , Traumatismos de los Tejidos Blandos/diagnóstico por imagen , Traumatismos de los Tejidos Blandos/cirugía , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/lesiones , Dedos del Pie/cirugía
10.
J Foot Ankle Surg ; 60(5): 983-989, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34006434

RESUMEN

Radiographic findings in several atypical cases of postaxial polydactyly of the foot do not provide sufficient information to assess the cartilaginous structures or duplicated digit connections at the MTP joint. The purpose of this study was to demonstrate the surgical procedures using arthrography for the cartilaginous structures of the MTP joint in postaxial polydactyly of the foot. We performed arthrography in 7 feet of 7 patients with postaxial polydactyly of the foot in which duplication of the proximal phalanx was observed at the fifth MTP joint on the basis of radiographic evaluation. The average age at surgery was 13.5 months and average duration of postsurgical follow-up was 36 months. Individual surgical procedures were confirmed or modified during the operation by reference to the arthrographic findings. Radiographic and arthrographic findings were assessed in relation to the findings from direct observation of the cartilaginous structures at surgery. Postoperative malalignment, functional disturbance and pain in the reconstructed toe were evaluated. The arthrographic findings provided different forms of cartilaginous structures that could be categorized in 4 types, and reflected the cartilaginous connection visualized at surgery that could not be detected on radiographs in each case. No cases revealed any deformities, functional disturbance, or pain in the reconstructed toe after surgery. The parents' evaluation in each case was "very satisfied" or "satisfied." The arthrographic findings provided additional information regarding variations in the cartilaginous structures of the fifth MTP joint and for determining individual surgical procedure for postaxial polydactyly of the foot.


Asunto(s)
Polidactilia , Dedos , Pie , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Radiografía , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía
11.
J Foot Ankle Surg ; 60(1): 172-175, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33218866

RESUMEN

Fracture dislocation injuries of the toes are rare among pediatric population. These injuries when acute are mostly treated conservatively and a good reduction must be ensured. We present the case of a 2-year-old girl who presented with missed chronic fracture dislocation of the proximal interphalangeal joint of the fifth toe, which was managed by open reduction and internal fixation and had a good outcome at over 1 year of follow up. We believe that this is the first case of this injury to be published in the peer-reviewed literature.


Asunto(s)
Fractura-Luxación , Fracturas Óseas , Luxaciones Articulares , Niño , Preescolar , Femenino , Fractura-Luxación/diagnóstico por imagen , Fractura-Luxación/cirugía , Fijación Interna de Fracturas , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/cirugía , Humanos , Luxaciones Articulares/diagnóstico por imagen , Luxaciones Articulares/cirugía , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía
12.
J Appl Biomech ; 37(3): 233-239, 2021 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-33690165

RESUMEN

Knee osteoarthritis is thought to result, in part, from excessive and unbalanced joint loading. Toe-in and toe-out gait modifications produce alterations in external knee joint moments, and some improvements in pain over the short- and long-term. The aim of this study was to probe mechanisms of altered joint loading through the assessment of tibiofemoral contact in standing with toe-in and toe-out positions using an open magnetic resonance scanner. In this study, 15 young, healthy participants underwent standing magnetic resonance imaging of one of their knees in 3 foot positions. Images were analyzed to determine contact in the tibiofemoral joint, with primary outcomes including centroid of contact and contact area for each compartment and overall. The centroid of contact shifted laterally in the lateral compartment with both toe-in and toe-out postures, compared with the neutral position (P < .01), while contact area in the medial and lateral compartments showed no statistical differences. Findings from this study indicate that changes in the loading anatomy are present in the tibiofemoral joint with toe-in and toe-out and that a small amount of lateralization of contact, especially in the lateral compartment, does occur with these altered lower limb orientations.


Asunto(s)
Articulación de la Rodilla , Osteoartritis de la Rodilla , Fenómenos Biomecánicos , Pie , Marcha , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Postura , Dedos del Pie/diagnóstico por imagen
13.
Foot Ankle Surg ; 27(1): 60-65, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32173282

RESUMEN

BACKGROUND: Curly toe deformity is a relatively common deformity that generally occurs at the 4th and 5th proximal and/or middle phalanges but rarely presents with symptoms. Although numerous open operative techniques have been introduced, there is no established treatment yet. We report the results of minimally invasive correction for symptomatic, fixed curly toe deformity. METHODS: Between 2016 and 2018, 25 consecutive percutaneous dorsolateral closing wedge-shaped osteotomies with Shannon burrs at the proximal and/or middle phalanx were performed. We assessed the postoperative clinical and radiological changes at a mean of 22.51 months of follow-up. RESULTS: The locations of osteotomy were at the middle phalanx in 10 cases, proximal phalanx in 13 cases, and both in one case. The mean amount of corrections of varus inclination and shortening were 16.54° and 2.24 mm, respectively. The Foot and Ankle Ability Measure Activities of Daily Living scores significantly improved from 59.09 preoperatively to 74.55 at the last follow-up. There was one case of pin site infection and one case of incision site numbness due to digital nerve injury. CONCLUSIONS: Minimally invasive dorsolateral closing wedge-shape osteotomy is a simple, safe, and effective correction for symptomatic, fixed curly toe deformity.


Asunto(s)
Actividades Cotidianas , Deformidades Adquiridas del Pie/cirugía , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Osteotomía/métodos , Dedos del Pie/cirugía , Anciano , Femenino , Deformidades Adquiridas del Pie/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Dedos del Pie/diagnóstico por imagen , Resultado del Tratamiento
14.
Hum Mutat ; 41(12): 2087-2093, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32906221

RESUMEN

Clinical expression of Ellis-van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a noncanonical splice-site in-frame change (c.1316-7A>G) in the daughter. Complementary DNA sequencing, immunoblot, and immunofluorescence experiments using patient-derived fibroblasts and Evc-/- mouse embryonic fibroblasts showed that p.Arg622Ter is a loss-of-function mutation, whereas p.Arg663Pro and the splice-site change c.1316-7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as "common atrium/AVCD with postaxial polydactyly" is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype-phenotype correlations in this syndrome.


Asunto(s)
Síndrome de Ellis-Van Creveld/genética , Dedos/anomalías , Predisposición Genética a la Enfermedad , Defectos de los Tabiques Cardíacos/genética , Proteínas de la Membrana/genética , Mutación/genética , Polidactilia/genética , Dedos del Pie/anomalías , Adulto , Animales , Niño , Preescolar , Síndrome de Ellis-Van Creveld/diagnóstico por imagen , Familia , Femenino , Dedos/diagnóstico por imagen , Defectos de los Tabiques Cardíacos/diagnóstico por imagen , Humanos , Masculino , Ratones , Linaje , Polidactilia/diagnóstico por imagen , Dedos del Pie/diagnóstico por imagen
15.
Clin Genet ; 97(6): 915-919, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32112393

RESUMEN

Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510), postaxial polydactyly types A1 (PAPA1) and B (PAPB) (MIM #174200), and preaxial polydactyly type 4 (MIM #174700). All these disorders follow an autosomal dominant pattern of inheritance. Hypothalamic hamartomas (MIM 241800) is associated with somatic variants in GLI3. We report a related couple with parents having PAPA1 and PAPB, who had a fetus with a phenotype most compatible with PHS. Molecular analyses demonstrated homozygosity for a pathogenic GLI3 variant (c.1927C > T; p. Arg643*) in the fetus and heterozygosity in the parents. The genetic analysis in this family demonstrates that heterozygosity and homozygosity for the same GLI3 variant can cause a different phenotype. Furthermore, the occurrence of Pallister-Hall-like syndrome in a homozygous patient should be taken into account in genetic counseling of families with PAPA1/PAPB.


Asunto(s)
Anomalías Múltiples/genética , Dedos/anomalías , Proteínas del Tejido Nervioso/genética , Síndrome de Pallister-Hall/genética , Polidactilia/genética , Dedos del Pie/anomalías , Proteína Gli3 con Dedos de Zinc/genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/patología , Feto Abortado/diagnóstico por imagen , Feto Abortado/patología , Adulto , Femenino , Dedos/diagnóstico por imagen , Dedos/patología , Heterocigoto , Homocigoto , Humanos , Masculino , Síndrome de Pallister-Hall/complicaciones , Síndrome de Pallister-Hall/diagnóstico por imagen , Síndrome de Pallister-Hall/patología , Linaje , Fenotipo , Polidactilia/complicaciones , Polidactilia/diagnóstico por imagen , Polidactilia/patología , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/patología
16.
Exp Mol Pathol ; 115: 104471, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32446860

RESUMEN

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a developmental brain disorder characterized by an enlarged brain size with bilateral perisylvian polymicrogyria and a variable degree of ventriculomegaly. MPPH syndrome is associated with oromotor dysfunction, epilepsy, intellectual disability and postaxial hexadactyly. The molecular diagnosis of this disorder is established by the identification of a pathogenic variant in either AKT3, CCND2 or PIK3R2. Previously reported AKT3 variants are associated with various brain abnormalities and may lead to megalencephaly. MPPH syndrome is usually due to germline pathogenic AKT3 variants. Somatic mosaic pathogenic variants associated with hemimegalencephaly, which is similar to MPPH, have also been observed. A Hungarian Roma family with two half-siblings, which present with intellectual disability, dysmorphic features, epilepsy, brain malformations, and megalencephaly was studied. Whole exome sequencing (WES) analysis was performed. WES analysis revealed a heterozygous c.1393C > T p.(Arg465Trp) pathogenic missense AKT3 variant in both affected half-siblings. The variant was verified via Sanger sequencing and was not present in the DNA sample from the healthy mother, which was derived from peripheral blood, suggesting maternal germline mosaicism. In conclusion, this is the first report in which maternal germline mosaicism of a rare pathogenic AKT3 variant leads to autosomal dominantly inherited MPPH syndrome.


Asunto(s)
Dedos/anomalías , Células Germinativas/metabolismo , Hidrocefalia/congénito , Patrón de Herencia/genética , Megalencefalia/genética , Mosaicismo , Polidactilia/genética , Polimicrogiria/genética , Proteínas Proto-Oncogénicas c-akt/genética , Dedos del Pie/anomalías , Adolescente , Niño , Femenino , Dedos/diagnóstico por imagen , Humanos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/genética , Imagen por Resonancia Magnética , Masculino , Megalencefalia/diagnóstico por imagen , Linaje , Fenotipo , Polidactilia/diagnóstico por imagen , Polimicrogiria/diagnóstico por imagen , Hermanos , Síndrome , Dedos del Pie/diagnóstico por imagen
17.
BMC Vet Res ; 16(1): 323, 2020 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-32878616

RESUMEN

BACKGROUND: Intraosseous epidermoid cyst (IEC) is a rare, non-neoplastic, pathology in animals and humans that most commonly affects the distal phalanx. In dogs, it is important to differentiate this lesion from malignant digital tumours causing bone lysis. In previous reports, IEC has been described to affect only a single digit at the time of diagnosis which is usually based on histopathology. This is the first case report to describe immunohistochemically confirmed IECs affecting simultaneously multiple digits. CASE PRESENTATION: A 4-and-a-half-year-old female spayed Great Dane was presented with a 2-month history of progressive swelling of the distal phalanx (PIII) of digits IV and V of the right pelvic limb. Eleven weeks prior to presentation, the dog had a low-grade cutaneous mast cell tumour completely excised from the craniolateral base of its left pinna. A history of trauma to 1 of the nails of the same pes 4 years prior to referral was also reported. Examination of the right pelvic limb identified firm non-painful swelling of PIII of digits IV and V, with concurrent deformation of the nails. Radiographs of the right pes obtained by the primary veterinarian identified an expansile lesion of PIII of digits IV and V. Computed tomography identified large expansile lesions of PIII of digits IV and V, with associated cortical thinning and soft tissue swelling. Neoplasia was considered the most likely radiographic diagnosis. Histopathology of Jamshidi bone biopsies was consistent with intraosseous epidermoid cyst, which was confirmed with immunohistochemistry. Amputation of PIII of digits IV and V at the level of mid-PII was performed as definitive treatment. No recurrence of the lesion occurred during the 10-month follow-up period. CONCLUSIONS: Intraosseous epidermoid cysts should be included in the differential diagnosis for expansile lesions affecting the canine digit. It is important to differentiate them from other digital lesions, with bone involvement, such as malignant digital tumours, which often require more extensive surgery for definitive treatment. The case herein highlights that this lesion can affect simultaneously multiple digits. Definitive diagnosis can be achieved by identification of keratin-producing epithelial cells on histopathology and confirmed by pancytokeratin labelling.


Asunto(s)
Enfermedades de los Perros/diagnóstico , Quiste Epidérmico/veterinaria , Enfermedades del Pie/veterinaria , Dedos del Pie/patología , Amputación Quirúrgica/métodos , Amputación Quirúrgica/veterinaria , Animales , Antiinflamatorios no Esteroideos/uso terapéutico , Enfermedades de los Perros/patología , Enfermedades de los Perros/terapia , Perros , Quiste Epidérmico/diagnóstico , Quiste Epidérmico/patología , Quiste Epidérmico/terapia , Femenino , Enfermedades del Pie/diagnóstico , Enfermedades del Pie/patología , Enfermedades del Pie/terapia , Meloxicam/uso terapéutico , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía
18.
J Infect Chemother ; 26(8): 843-846, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32402735

RESUMEN

Mycobacterium chelonae is a rapidly growing mycobacterium that has the potential to cause refractory infections in humans. Mycobacteremia resulting from the organism is extremely rare, and its clinical features are yet to be uncovered. We herein present a case of M. chelonae bloodstream infection involving an immunocompromised older patient. A 79-year-old woman, on a long-term treatment with prednisolone plus tacrolimus for rheumatoid arthritis, visited our outpatient department complaining of deteriorating pain and swelling at her right 1st toe. Laboratory parameters showed elevated C-reactive protein and leukocytosis, and magnetic resonance imaging indicated osteomyelitis at the proximal phalanx of her right 1st toe. Considering the refractory course, the infected toe was immediately amputated. M. chelonae was isolated from bacterial cultures of the resected tissue and blood (BD BACTEC™ FX blood culture system, Becton Dickinson, Sparks, MD, USA), leading to a diagnosis of disseminated M. chelonae infection. We treated the patient with an antibiotic combination of clarithromycin, minocycline, and imipenem (2 weeks), which was converted to oral therapy of clarithromycin, doxycycline, and levofloxacin. This case highlighted the potential pathogenesis of M. chelonae to cause mycobacteremia in an immunocompromised patient.


Asunto(s)
Bacteriemia/diagnóstico , Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Mycobacterium chelonae/aislamiento & purificación , Osteomielitis/diagnóstico , Dedos del Pie/patología , Anciano , Antibacterianos/uso terapéutico , Bacteriemia/tratamiento farmacológico , Bacteriemia/etiología , Quimioterapia Combinada , Femenino , Humanos , Huésped Inmunocomprometido , Imagen por Resonancia Magnética , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Infecciones por Mycobacterium no Tuberculosas/etiología , Osteomielitis/complicaciones , Osteomielitis/tratamiento farmacológico , Osteomielitis/microbiología , Dedos del Pie/diagnóstico por imagen , Resultado del Tratamiento
19.
BMC Musculoskelet Disord ; 21(1): 485, 2020 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-32703177

RESUMEN

BACKGROUND: The objective of this study was to explore the relationships between claw toe deformity, peripheral neuropathy, intrinsic muscle volume, and plantar aponeurosis thickness using computed tomography (CT) images of diabetic feet in a cross-sectional analysis. METHODS: Forty randomly-selected subjects with type 2 diabetes were selected for each of the following four groups (n = 10 per group): 1) peripheral neuropathy with claw toes, 2) peripheral neuropathy without claw toes, 3) non-neuropathic with claw toes, and 4) non-neuropathic without claw toes. The intrinsic muscles of the foot were segmented from processed CT images. Plantar aponeurosis thickness was measured in the reformatted sagittal plane at 20% of the distance from the most inferior point of the calcaneus to the most inferior point of the second metatarsal. Five measurement sites in the medial-lateral direction were utilized to fully characterize the plantar aponeurosis thickness. A linear mixed-effects analysis on the effects of peripheral neuropathy and claw toe deformity on plantar aponeurosis thickness and intrinsic muscle volume was performed. RESULTS: Subjects with concurrent neuropathy and claw toes had thicker mean plantar aponeurosis (p < 0.006) and may have had less mean intrinsic muscle volume (p = 0.083) than the other 3 groups. The effects of neuropathy and claw toes on aponeurosis thickness were synergistic rather than additive. A similar pattern may exist for intrinsic muscle volume, but results were not as conclusive. A negative correlation was observed between plantar aponeurosis thickness and intrinsic muscle volume (R2 = 0.323, p < 0.001). CONCLUSIONS: Subjects with concurrent neuropathy and claw toe deformity were associated with the smallest intrinsic foot muscle volumes and the thickest plantar aponeuroses. Intrinsic muscle atrophy and plantar aponeurosis thickening may be related to the development of claw toes in the presence of neuropathy.


Asunto(s)
Diabetes Mellitus Tipo 2 , Pie Diabético , Síndrome del Dedo del Pie en Martillo , Enfermedades del Sistema Nervioso Periférico , Aponeurosis , Estudios Transversales , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/diagnóstico por imagen , Humanos , Enfermedades del Sistema Nervioso Periférico/diagnóstico por imagen , Enfermedades del Sistema Nervioso Periférico/etiología , Dedos del Pie/diagnóstico por imagen
20.
J Foot Ankle Surg ; 59(1): 125-127, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31882135

RESUMEN

Macrodactyly of the foot is an extremely rare congenital malformation characterized by an increase in the size of all the elements or structures of a digit or digits. Most sources indicate that macrodactyly affects the hand more often than the foot. This rare medical condition usually requires surgical intervention with a precise preoperative plan and postoperative rehabilitation. We present a case of macrodactyly of the right foot in which surgical reduction of the foot under assistance of 3-dimensional image technology was performed with satisfying cosmetic and functional outcomes.


Asunto(s)
Dedos/anomalías , Deformidades Congénitas del Pie/cirugía , Deformidades Congénitas de las Extremidades/cirugía , Procedimientos de Cirugía Plástica/métodos , Amputación Quirúrgica/métodos , Niño , Dedos/diagnóstico por imagen , Dedos/cirugía , Deformidades Congénitas del Pie/diagnóstico por imagen , Humanos , Imagenología Tridimensional/métodos , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades Inferiores/diagnóstico por imagen , Deformidades Congénitas de las Extremidades Inferiores/cirugía , Imagen por Resonancia Magnética , Masculino , Recuperación de la Función , Cirugía Asistida por Computador/métodos , Dedos del Pie/anomalías , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía , Tomografía Computarizada por Rayos X
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