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2.
Clin Anat ; 34(1): 19-23, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32281156

RESUMEN

In this article, we report a case of isolated podal osteochondroma from the prehistoric Hypogeum of Calaforno (Giarratana, Ragusa, Sicily). Although the phalanx exhibiting the benign tumoral mass comes from a context featuring several commingled remains, the very good state of preservation of this bone allowed us to perform a comprehensive study of the neoplasm by applying a multidisciplinary approach encompassing archeology, morphology, stereomicroscopy, and radiology. The results from this very ancient specimen have been assessed in the light of the available paleopathological literature and clinical implications currently encountered in modern patients.


Asunto(s)
Neoplasias Óseas/historia , Osteocondroma/historia , Falanges de los Dedos del Pie/patología , Regiones de la Antigüedad , Historia Antigua , Humanos , Paleopatología , Sicilia
4.
Am J Med Genet A ; 182(6): 1438-1448, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32259393

RESUMEN

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.


Asunto(s)
Anquilosis/genética , Huesos del Carpo/anomalías , Proteínas Portadoras/genética , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/genética , Pérdida Auditiva Conductiva/genética , Estribo/anomalías , Sinostosis/genética , Huesos Tarsianos/anomalías , Falanges de los Dedos del Pie/anomalías , Anquilosis/complicaciones , Anquilosis/epidemiología , Anquilosis/patología , Huesos del Carpo/patología , Niño , Preescolar , China/epidemiología , Femenino , Deformidades Congénitas del Pie/complicaciones , Deformidades Congénitas del Pie/epidemiología , Deformidades Congénitas del Pie/patología , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Deformidades Congénitas de la Mano/complicaciones , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/patología , Pérdida Auditiva Conductiva/complicaciones , Pérdida Auditiva Conductiva/epidemiología , Pérdida Auditiva Conductiva/patología , Humanos , Masculino , Mutación Missense/genética , Linaje , Fenotipo , Estribo/patología , Sinostosis/complicaciones , Sinostosis/epidemiología , Sinostosis/patología , Huesos Tarsianos/patología , Falanges de los Dedos del Pie/patología , Dedos del Pie/anomalías , Dedos del Pie/patología , Secuenciación del Exoma
5.
Int J Low Extrem Wounds ; 19(1): 99-104, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31556351

RESUMEN

The treatment of choice for diabetic foot osteomyelitis is surgical debridement and targeted antibiotics with or without revascularization, depending on vascular status. In our society, debridement is done by either a vascular or orthopedic surgeon, and the common teaching is that generous amputation of bone with the accompanying soft tissue envelope is essential for adequate source control and to prevent recurrence (which remains as high as 30% even with this approach). Most of our patients undergo formal ray amputation through the metatarsal neck, while a few get digital amputations through the interphalangeal joints. Many of the resultant wounds cannot be closed and are left to heal by secondary intention. These amputations invariably alter the biomechanics of the foot and leave large and slow-healing open wounds, which have associated adverse psychosocial impacts. We describe 2 cases of patients who had osteomyelitis in the region of the forefoot who underwent complete bony resections of the osteomyelitis but with sparing of the soft tissue envelopes with good outcomes, and we challenge the dogma that maximal debridement of soft tissue must accompany debridement of necrotic and infected bone.


Asunto(s)
Desbridamiento/métodos , Pie Diabético/complicaciones , Disección/métodos , Huesos del Metacarpo , Tratamientos Conservadores del Órgano/métodos , Osteomielitis/cirugía , Falanges de los Dedos del Pie , Antepié Humano/patología , Antepié Humano/cirugía , Humanos , Masculino , Huesos del Metacarpo/diagnóstico por imagen , Huesos del Metacarpo/patología , Huesos del Metacarpo/cirugía , Persona de Mediana Edad , Osteomielitis/etiología , Radiografía/métodos , Procedimientos de Cirugía Plástica/métodos , Falanges de los Dedos del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/patología , Falanges de los Dedos del Pie/cirugía , Resultado del Tratamiento
7.
Vet J ; 250: 63-70, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31383422

RESUMEN

Laminitis is associated with failure of the suspensory apparatus of the distal phalanx (SADP) connecting the distal phalanx to the hoof wall. The specific aim of this study was to examine in vitro whether thinning of the hoof wall leading to increased deformability influences the damage of the laminar tissue created by loading of the hoof. Paired cadaver forelimbs from twelve horses were used. For each pair, the hoof wall from one hoof was thinned by 25%; this was ascertained by radiography. The contralateral hooves were used as controls. In a material testing machine, hooves were loaded in a proximodistal direction at 0.5mm/s until a cut-off value of 8kN or 14mm was reached. Afterwards, samples of the SADP were taken for histology. Image-based evaluation of the destruction of the SADP was performed using quantitative histogram analysis. Additionally, three examiners masked to treatment (trimmed/untrimmed) qualitatively evaluated SADP destruction. During hoof loading with forces from 0.5 to 1.8 times the body mass of the donor horses, hooves with thinned hoof wall underwent significantly more deformation (P<0.05). Quantitative histogram analysis detected a shift to higher brightness values and a higher pixel intensity in control hooves, representing disruption in the histologic analysis. Qualitative evaluation of histology sections showed significantly more disruption of the SADP in untrimmed hooves (P=0.03). These results confirm the hypothesis that reduced hoof wall thickness can decrease disruption of laminar tissue in vitro, thus supporting the evaluation of hoof wall reduction as a prophylactic measure in horses at imminent risk of SADP failure.


Asunto(s)
Enfermedades del Pie/veterinaria , Pezuñas y Garras/patología , Enfermedades de los Caballos/patología , Falanges de los Dedos del Pie/patología , Animales , Cadáver , Femenino , Enfermedades del Pie/patología , Enfermedades del Pie/cirugía , Miembro Anterior/patología , Miembro Anterior/cirugía , Pezuñas y Garras/cirugía , Enfermedades de los Caballos/cirugía , Caballos , Técnicas In Vitro/veterinaria , Masculino , Falanges de los Dedos del Pie/cirugía
8.
J Pak Med Assoc ; 69(6): 896-898, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31201400

RESUMEN

To report a case of chondrosarcoma of right big toe with left orbital and left infra temporal metastases. Chondrosarcoma is the second most frequent primary malignant tumour of the bone. A 56 year old man had history of trauma on his right big toe, which was amputated and the biopsy in 2011 at Sindh Institute of Urology and Transplantation (SIUT) revealed chondrosarcoma with clear margins. Eventually the patient was presented with swelling of the left eye, pain and gradual loss of vision of that eye. Later a CT scan of his chest, brain and orbit showed pulmonary and pleural based nodule, with mediastinal and hilar lymphadenopathy representing metastatic deposit in left orbit, extending to left infra temporal region. A treatment of palliative chemotherapy was started with doxorubicin and ifosfamide, after which he was referred for radiotherapy. At that time he had loss of vision, pain and exopthalamus, and palliative radiotherapy was delivered to the left orbit with the prescribed dose of30 Gy/300cGy×10 fraction. Thereafter his case will be followed up at the oncology OPD after a 03 month interval.


Asunto(s)
Neoplasias Óseas/patología , Condrosarcoma/secundario , Neoplasias Pulmonares/secundario , Neoplasias Orbitales/secundario , Neoplasias de la Base del Cráneo/secundario , Falanges de los Dedos del Pie/patología , Condrosarcoma/diagnóstico por imagen , Humanos , Fosa Infratemporal , Masculino , Persona de Mediana Edad , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias de la Base del Cráneo/diagnóstico por imagen , Tomografía Computarizada por Rayos X
9.
Exp Dermatol ; 28(4): 383-390, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30074290

RESUMEN

In a large-scale ageing study, 30 inbred mouse strains were systematically screened for histologic evidence of lesions in all organ systems. Ten strains were diagnosed with similar nail abnormalities. The highest frequency was noted in NON/ShiLtJ mice. Lesions identified fell into two main categories: acute to chronic penetration of the third phalangeal bone through the hyponychium with associated inflammation and bone remodelling or metaplasia of the nail matrix and nail bed associated with severe orthokeratotic hyperkeratosis replacing the nail plate. Penetration of the distal phalanx through the hyponychium appeared to be the initiating feature resulting in nail abnormalities. The accompanying acute to subacute inflammatory response was associated with osteolysis of the distal phalanx. Evaluation of young NON/ShiLtJ mice revealed that these lesions were not often found, or affected only one digit. The only other nail unit abnormality identified was sporadic subungual epidermoid inclusion cysts which closely resembled similar lesions in human patients. These abnormalities, being age-related developments, may have contributed to weight loss due to impacts upon feeding and should be a consideration for future research due to the potential to interact with other experimental factors in ageing studies using the affected strains of mice.


Asunto(s)
Envejecimiento/patología , Uñas Malformadas/patología , Falanges de los Dedos del Pie/patología , Animales , Remodelación Ósea , Estudios Transversales , Quiste Epidérmico/complicaciones , Femenino , Inflamación/etiología , Queratina-1/metabolismo , Queratina-10/metabolismo , Queratosis/etiología , Estudios Longitudinales , Masculino , Metaplasia/patología , Ratones , Ratones Endogámicos , Uñas Malformadas/etiología , Uñas Malformadas/metabolismo
11.
J Nippon Med Sch ; 84(6): 308-310, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29279564

RESUMEN

Giant cell tumors of the tendon sheath (GCT-TS) are one of the most common tumors of the hand, along with ganglions. However, occurrence in the toes is far less common. Here we present a rare case of GCT-TS at the middle phalanx level of the flexor digitorum longus tendon sheath. Magnetic resonance imaging showed low intensity both on T1 and T2 weighted images. To the best of our knowledge, our case is the first report of a GCT-TS arising at the middle phalanx level of the flexor digitorum longus tendon sheath of the fourth toe. Although GCT-TS are rare in the toe, they must be included in the differential diagnoses of soft tissue tumors arising in the toes.


Asunto(s)
Tumor de Células Gigantes de las Vainas Tendinosas/diagnóstico por imagen , Falanges de los Dedos del Pie , Adulto , Diagnóstico Diferencial , Imagen de Difusión por Resonancia Magnética , Femenino , Tumor de Células Gigantes de las Vainas Tendinosas/patología , Tumor de Células Gigantes de las Vainas Tendinosas/cirugía , Humanos , Falanges de los Dedos del Pie/patología , Falanges de los Dedos del Pie/cirugía , Resultado del Tratamiento
13.
Ann Ital Chir ; 88: 368-370, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28632148

RESUMEN

A cutaneous horn could be defined as a conical projection on the surface of skin made of cornified material and resembling an animal horn. These lesions most commonly affect light-skinned men aged between 50 to 89 years and usually appear in sun exposed areas. Radiation, chronic irritation and even human papilloma virus-2 infection may be precipitating factors. More than half of the cases originate from either malignant or premalignant lesions, therefore the base of the lesion must be carefully examined histologically. Long standing presence of the lesion, conspicuous protrusion of the horn and pain are positive predictive factors for malignancy and invasivity. In these cases an invasive surgical approach is needed. KEY WORDS: Basal cell carcinoma, Cancer, Clow foot, Non melanoma skin cancer, Skin cancer.


Asunto(s)
Carcinoma de Células Escamosas/cirugía , Deformidades Adquiridas del Pie/cirugía , Huesos Metatarsianos/cirugía , Procedimientos de Cirugía Plástica/métodos , Neoplasias Cutáneas/cirugía , Falanges de los Dedos del Pie/cirugía , Adulto , Carcinoma de Células Escamosas/diagnóstico por imagen , Carcinoma de Células Escamosas/patología , Deformidades Adquiridas del Pie/diagnóstico por imagen , Deformidades Adquiridas del Pie/patología , Humanos , Masculino , Huesos Metatarsianos/diagnóstico por imagen , Huesos Metatarsianos/patología , Osteotomía , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/patología , Colgajos Quirúrgicos , Falanges de los Dedos del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/patología
14.
J Foot Ankle Surg ; 56(4): 832-835, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28633787

RESUMEN

We report a unique case of an epithelioid hemangioma of the third middle phalanx in which the lesion replaced the phalanx, became symptomatic, and then required resection, bone grafting, and joint arthroplasty. To the best of our knowledge, this is the first report of an epithelioid hemangioma in the toe that was treated using this approach.


Asunto(s)
Neoplasias Óseas/cirugía , Hemangioma/cirugía , Falanges de los Dedos del Pie/cirugía , Adulto , Femenino , Humanos , Falanges de los Dedos del Pie/patología
16.
J Foot Ankle Surg ; 56(2): 357-361, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28231967

RESUMEN

Multiple myeloma is a malignancy of plasma cell proliferation leading to production of monoclonal immunoglobins. Among the classic features of multiple myeloma are bone lesions, which typically manifest in the axial skeleton, vertebrae, pelvis, skull, ribs, and proximal extremities. The several types of multiple myeloma include symptomatic multiple myeloma, monoclonal gammopathy of undetermined significance, smoldering/indolent myeloma, and solitary plasmacytoma of bone. Although rare, plasmacytomas of the foot and ankle have been described in published studies. We present, to the best of our knowledge, the first description of classic diffuse myelomatosis lesions associated with symptomatic myeloma in the foot of a patient with advanced disease who was treated in the podiatric surgery clinic for pathologic fracture.


Asunto(s)
Neoplasias Óseas/patología , Huesos Metatarsianos/patología , Mieloma Múltiple/patología , Falanges de los Dedos del Pie/patología , Neoplasias Óseas/diagnóstico por imagen , Fracturas Espontáneas/diagnóstico por imagen , Fracturas Espontáneas/etiología , Humanos , Masculino , Huesos Metatarsianos/diagnóstico por imagen , Huesos Metatarsianos/lesiones , Persona de Mediana Edad , Mieloma Múltiple/diagnóstico por imagen , Enfermedades Raras , Falanges de los Dedos del Pie/diagnóstico por imagen
17.
Foot Ankle Spec ; 10(5): 470-472, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28161986

RESUMEN

Intraosseous epidermal inclusion cysts (IEpC) are benign bone tumors that often present in the phalanges of the fingers, but rarely are seen in the lower extremity. These tumors often present following surgery, and have a similar clinical and radiographic presentation to osteomyelitis. The lack of defining characteristics makes preoperative diagnosis of these tumors very difficult. It is crucial to differentiate these tumors from malignant lesions with similar presentation. This case study presents our treatment of this osseous tumor and reviews the available literature describing this condition. LEVELS OF EVIDENCE: Level V: Case report.


Asunto(s)
Quistes Óseos/cirugía , Quiste Epidérmico/cirugía , Enfermedades del Pie/cirugía , Falanges de los Dedos del Pie/cirugía , Amputación Quirúrgica/métodos , Quistes Óseos/diagnóstico por imagen , Quistes Óseos/patología , Progresión de la Enfermedad , Quiste Epidérmico/diagnóstico por imagen , Quiste Epidérmico/patología , Femenino , Estudios de Seguimiento , Enfermedades del Pie/diagnóstico por imagen , Enfermedades del Pie/patología , Humanos , Imagen por Resonancia Magnética/métodos , Persona de Mediana Edad , Dimensión del Dolor , Índice de Severidad de la Enfermedad , Falanges de los Dedos del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/patología , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Cicatrización de Heridas/fisiología
18.
Foot Ankle Int ; 38(2): 153-158, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27672063

RESUMEN

BACKGROUND: Operative correction of a symptomatic hallux valgus interphalangeus (HVI) deformity is often achieved with an osteotomy at the proximal end of the proximal phalanx (Akin osteotomy). However, the apex of the typical HVI deformity (center of rotation angle) is at the interphalangeal joint of the hallux. This study was done to evaluate the results of performing a medial closing wedge osteotomy at the distal end of the proximal phalanx. METHODS: Thirty-three patients (33 feet) underwent an osteotomy at the distal end of the proximal phalanx for correction of HVI. All of the patients had other forefoot deformities which were corrected at the same time. Eight of these were revision procedures of prior forefoot operations. The length of follow-up was determined by the associated procedures with a minimum follow-up of 4 months. RESULTS: The preoperative hallux valgus interphalangeus angle averaged 16 degrees of valgus (range 7-32 degrees) and was corrected to an average of 2 degrees of valgus (range 5 degrees valgus to 5 degrees varus). All of the patients were satisfied with the postoperative appearance and function of the first toe. Because of simultaneous correction of numerous other forefoot problems, it was not possible to specifically isolate or evaluate the effects and benefits of this osteotomy using outcomes measures. There was one intraoperative complication resulting in a fracture extending into the adjacent IP joint. CONCLUSIONS: Correction of an HVI deformity can be achieved with an osteotomy at the distal end of the proximal phalanx. This was a safe technique with few complications and with good results in terms of both correction and patient satisfaction. LEVEL OF EVIDENCE: Level IV, retrospective case series.


Asunto(s)
Hallux Valgus/cirugía , Osteotomía/métodos , Falanges de los Dedos del Pie/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Hallux Valgus/diagnóstico por imagen , Hallux Valgus/patología , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Falanges de los Dedos del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/patología , Adulto Joven
20.
AJR Am J Roentgenol ; 207(6): 1252-1256, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27575610

RESUMEN

OBJECTIVE: The objectives of our study were to describe the MRI findings of pedal phalangeal bone marrow edema in patients with Raynaud phenomenon (RP) and discuss the clinical implications of these MRI findings. CONCLUSION: There is a progressive distal-to-proximal pattern of pedal phalangeal bone marrow edema on MRI in patients with RP. This knowledge may allow early diagnosis and treatment of rheumatologic disorders that are potentially associated with RP.


Asunto(s)
Enfermedades de la Médula Ósea/diagnóstico por imagen , Médula Ósea/diagnóstico por imagen , Edema/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Enfermedad de Raynaud/diagnóstico por imagen , Falanges de los Dedos del Pie/diagnóstico por imagen , Adolescente , Adulto , Médula Ósea/patología , Enfermedades de la Médula Ósea/etiología , Enfermedades de la Médula Ósea/patología , Diagnóstico Diferencial , Edema/etiología , Edema/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Raynaud/complicaciones , Enfermedad de Raynaud/patología , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Falanges de los Dedos del Pie/patología
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