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1.
Reumatol Clin (Engl Ed) ; 20(3): 162-165, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38443229

ABSTRACT

Gluteal pain is a frequent cause of medical attention in the daily clinical practice. It can be caused by multiple pathologies, being ischiofemoral impingement syndrome among those included in its differential diagnosis. Encompassed within the deep gluteal syndromes, this entity occurs as a consequence of the entrapment of the neuromuscular structures between the lesser femoral trochanter and the ischial tuberosity, causing pain in the root of the lower limb, with irradiation towards the thigh or the gluteal region and poor tolerance to deambulation and sedestation. The magnetic resonance imaging of the hip is fundamental for its diagnosis, and its management consists on medical treatment at onset. Despite not being a frequent diagnosis in the clinical practice in Rheumatology, keeping it in mind helps improving its prognosis by establishing an early and adequate treatment.


Subject(s)
Ischium , Musculoskeletal Pain , Humans , Ischium/diagnostic imaging , Ischium/pathology , Magnetic Resonance Imaging/methods , Femur/diagnostic imaging , Femur/pathology , Lower Extremity
2.
Int J Mol Sci ; 23(4)2022 Feb 14.
Article in English | MEDLINE | ID: mdl-35216193

ABSTRACT

Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a novel TBX4 mutation c.1241C>T (p.P414L) was identified in a SPS family and series of studies were performed to evaluate the influences of TBX4 mutations (including c.1241C>T and two known mutations c.256G>C and c.743G>T). Results showed that mesenchymal stem cells (MSCs) with stable overexpression of either TBX4 wild-type (TBX4wt) or mutants (TBX4mt) were successfully generated. Immunofluorescence study revealed that both the overexpressed TBX4 wild-type and mutants were evenly expressed in the nucleus suggesting that these mutations do not alter the translocation of TBX4 into the nucleus. Interestingly, MSCs overexpression of TBX4mt exhibited reduced differentiation activities and decreased FGF10 expression. Chromatin immunoprecipitation (ChIP) study demonstrated that TBX4 mutants still could bind to the promoter of FGF10. However, dual luciferase reporter assay clarified that the binding efficiencies of TBX4 mutants to FGF10 promoter were reduced. Taken together, MSCs were firstly used to study the function of TBX4 mutations in this study and the results indicate that the reduced binding efficiencies of TBX4 mutants (TBX4mt) to the promoter of FGF10 result in the abnormal biological processes which provide important information for the pathogenesis of SPS.


Subject(s)
Bone Diseases, Developmental/genetics , Hip/abnormalities , Ischium/abnormalities , Mutation/genetics , Patella/abnormalities , T-Box Domain Proteins/genetics , Adult , Bone Diseases, Developmental/pathology , Cell Line , Female , HEK293 Cells , Hip/pathology , Humans , Ischium/pathology , Mesenchymal Stem Cells/pathology , Patella/pathology , Promoter Regions, Genetic/genetics , Transcription Factors/genetics , Young Adult
3.
Acta Radiol ; 63(7): 948-957, 2022 Jul.
Article in English | MEDLINE | ID: mdl-34098775

ABSTRACT

BACKGROUND: Ischiofemoral impingement (IFI) is a known complication after total hip arthroplasty (THA). PURPOSE: To assess if increased postoperative (FA) is associated with magnetic resonance imaging (MRI) findings of IFI. MATERIAL AND METHODS: In 221 patients with THA, two independent readers measured FA, ischiofemoral space (IFS), quadratus femoris space (QFS), edema, and fatty infiltration of quadratus femoris muscle. Three sets of IFI-imaging features were defined: acute IFI (set 1): IFS ≤15 mm or QFS ≤10 mm and edema in the quadratus femoris muscle; chronic IFI (set 2): IFS ≤15 mm or QFS ≤10 mm and fatty infiltration of quadratus femoris muscle Goutallier grade ≥2; acute and chronic IFI (set 3) with both criteria applicable. For each set, FA angles were compared between positive findings of IFI and negative findings of IFI. The t-test for independent samples tested statistical significance. RESULTS: In 7.2% (16/221) of patients, findings of IFI (IFS ≤15 mm or QFS ≤10 mm and edema, n = 1; fatty infiltration, n = 9; or both, n = 6) were observed. In women, 11.4% (14/123) exhibited findings of IFI compared to 2.0% (2/98) in men. Comparison in set 1 (n = 7): mean antetorsion of 23.9° ± 9.8° (findings of acute IFI) compared to 14.4° ± 9.7° (P = 0.01). Comparison in set 2 (n = 15): mean antetorsion of 16.2° ± 6.3° (findings of chronic IFI) compared to 14.5° ± 9.9° (P = 0.49). Comparison in set 3 (n = 6): mean antetorsion of 20.4° ± 3.8° (findings of acute and chronic IFI) compared to 14.5° ± 9.9° (P = 0.01). CONCLUSION: After THA, high postoperative FA is associated with MRI findings of acute as well as acute and chronic IFI. Findings of IFI were commonly seen in women.


Subject(s)
Arthroplasty, Replacement, Hip , Femoracetabular Impingement , Arthroplasty, Replacement, Hip/adverse effects , Edema/diagnostic imaging , Edema/etiology , Female , Femur/diagnostic imaging , Hip Joint/diagnostic imaging , Hip Joint/pathology , Humans , Ischium/pathology , Magnetic Resonance Imaging/methods , Male
5.
Am J Hum Genet ; 105(6): 1294-1301, 2019 12 05.
Article in English | MEDLINE | ID: mdl-31761294

ABSTRACT

The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113∗ and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113∗ stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans.


Subject(s)
Abnormalities, Multiple/etiology , Bone Diseases, Developmental/etiology , Ectromelia/etiology , Hip/abnormalities , Homozygote , Ischium/abnormalities , Loss of Function Mutation , Lung Diseases/etiology , Lung/abnormalities , Patella/abnormalities , Pelvis/abnormalities , T-Box Domain Proteins/genetics , Abnormalities, Multiple/pathology , Adolescent , Bone Diseases, Developmental/pathology , Child , Ectromelia/pathology , Female , Hip/pathology , Humans , Ischium/pathology , Lung/pathology , Lung Diseases/pathology , Male , Patella/pathology , Pedigree , Pelvis/pathology , Prognosis
6.
Zhonghua Shao Shang Za Zhi ; 35(4): 261-265, 2019 Apr 20.
Article in Chinese | MEDLINE | ID: mdl-31060173

ABSTRACT

Objective: To investigate effects of clinical strategy on repair of pressure injury on ischial tuberosity based on the histopathological type. Methods: From January 2014 to January 2018, 33 patients with 33 pressure injuries on ischial tuberosity were admitted to our department. There were 25 males and 8 females aged 35 to 87 years. Pressure injuries on ischial tuberosity were repaired with different methods according to pathological types of denatured tissue on basal parts of wounds and tissue defect volumes. Areas of wounds after thorough debridement ranged from 2.0 cm×1.0 cm to 14.0 cm×12.0 cm. Pressure injuries of necrosis type with tissue defect volumes of 6.5-9.5 cm(3) were sutured directly after debridement at the first stage. Tissue defect volumes of 3 patients with pressure injuries of granulation type ranged from 56.0 to 102.5 cm(3). According to situation around wounds, the above mentioned 3 patients were respectively repaired with posterior femoral Z-shaped reconstruction, posterior femoral advanced V-Y flap, and posterior femoral propeller flap. Tissue defect volumes of 5 patients with pressure injuries of infection type ranged from 67.5 to 111.0 cm(3). Among the patients, 2 patients were repaired with posterior femoral propeller flaps, 2 patients were repaired with posterior femoral advanced V-Y flaps, and 1 patient was repaired with posterior femoral Z-shaped reconstruction. Among patients with pressure injuries of synovium type, wounds of 14 patients with tissue defect volumes 6.4-9.5 cm(3) were sutured directly after debridement, and tissue defect volumes of another 8 patients were 97.0-862.5 cm(3). Among the 8 patients, 7 patients were repaired with gluteus maximus myocutaneous flaps and continued vacuum sealing drainage was performed for 7 to 14 days according to volume of drainage, and 1 patient was repaired with posterior femoral propeller flap. Areas of flaps or myocutaneous flaps ranged from 3.5 cm× 2.5 cm to 14.0 cm×12.0 cm. The donor sites of flaps were sutured directly. Operative areas after operation and healing of wounds during follow-up were observed. Results: The sutured sites of 33 patients connected tightly, with normal skin temperature, color, and reflux. During follow-up of 12 months, wounds of 25 patients healed well with no local ulceration, and 8 patients were admitted to our department again due to recurrence of pressure injuries on or near the primary sites. Pathological types of pressure injuries of the 8 patients were synovium types. After complete debridement, the tissue defect volumes were 336.8-969.5 cm(3,) wounds with areas ranged from 8.0 cm×7.0 cm to 14.0 cm×12.0 cm were repaired with gluteus maximus myocutaneous flaps or posterior femoral propeller flaps which ranged from 8.0 cm×7.0 cm to 14.0 cm×12.0 cm. Eight patients were discharged after wound healing completely. During follow-up of 12 months, operative sites of the patients healed well, with no recurrence. Conclusions: Appropriate and targeted methods should be chosen to repair pressure injuries on ischial tuberosity based on the pathological types. Direct suture after debridement is the first choice to repair pressure injury of necrosis type. Pressure injuries of granulation type and infection type can be repaired with posterior femoral propeller flap, Z-shaped reconstruction, or advanced V-Y flap according to situation around wounds. Gluteus maximus myocutaneous flap is the first choice to repair pressure injury of synovium type. In addition, recurrence-prone characteristics of pressure injury of synovium type should be taken into consideration, plan should be made previously, and resources should be reserved.


Subject(s)
Ischium/pathology , Myocutaneous Flap , Plastic Surgery Procedures/methods , Pressure Ulcer/surgery , Soft Tissue Injuries/surgery , Surgical Flaps/blood supply , Adult , Aged , Aged, 80 and over , Debridement , Female , Femur , Humans , Male , Middle Aged , Pressure Ulcer/etiology , Skin Transplantation , Treatment Outcome
7.
Abdom Radiol (NY) ; 44(5): 1644-1674, 2019 05.
Article in English | MEDLINE | ID: mdl-30955068

ABSTRACT

PURPOSE: To review the pertinent anatomy and the imaging features of common and uncommon benign and malignant neoplasms and masses of the ischiorectal fossa. RESULTS: The ischiorectal or ischioanal fossa is the largest space in the anorectal region. The benign neoplasms that develop in the ischiorectal originate from the different components that forms the fossa including vascular tumors such as aggressive angiomyxoma or hemangioma; neural tumors as plexiform neurofibroma or schwannoma; fat tumors as lipoma; skin/skin appendages tumors as hidradenoma papilliferum; smooth or skeletal muscle tumors as solitary fibrous tumor. The malignant neoplasms that develop in the ischiorectal fossa also originate from different components that forms the fossa including vascular tumors such as angiosarcoma, neural tumors as malignant granular cell tumor and malignant peripheral nerve sheath tumor; fat tumors as liposarcoma; smooth or skeletal muscle tumors as leiomyosarcoma, rhabdomyosarcoma, malignant PEComa, or undifferentiated pleomorphic sarcoma. Additionally, the ischiorectal fossa can also harbor secondary hematogenous metastases and be affected by direct invasion from neoplasms of adjacent pelvic organs and structures. Furthermore, other miscellaneous masses can occur in the ischiorectal fossa including congenital and developmental lesions, and inflammatory and infectious processes. CONCLUSION: Knowledge of the anatomy, and the spectrum of imaging findings of common and uncommon benign and malignant neoplasms of the ischiorectal fossa is crucial for the radiologists during interpretation of images allowing them to make contributions to the diagnosis and better patient management.


Subject(s)
Ischium/pathology , Pelvic Neoplasms/diagnostic imaging , Rectal Neoplasms/diagnostic imaging , Anatomic Landmarks , Anus Neoplasms/diagnostic imaging , Diagnosis, Differential , Humans
8.
Orthopedics ; 42(3): e343-e345, 2019 May 01.
Article in English | MEDLINE | ID: mdl-30810758

ABSTRACT

The authors report an osteoblastoma-like variant of osteosarcoma of the right ischial tuberosity in a 14-year-old boy. Radiographs initially showed a bone-forming lesion of the right ischial tuberosity. The patient underwent biopsy with curettage and bone grafting, with final pathology revealing osteoblastoma. Two years after the initial procedure, he presented with exuberant bone formation about the operative site concerning for recurrence. He underwent a second biopsy that showed transformation into a high-grade osteoblastoma-like osteosarcoma. Results from staging studies were negative for distant metastatic disease. The patient was treated with standard 3-drug chemotherapy along with wide resection of the right ischium with periacetabular reconstruction and total hip arthroplasty. [Orthopedics. 2019; 42(3):e343-e345.].


Subject(s)
Bone Neoplasms/pathology , Cell Transformation, Neoplastic , Ischium/pathology , Osteoblastoma/pathology , Osteosarcoma/physiopathology , Adolescent , Humans , Male
9.
Mol Genet Genomic Med ; 7(4): e00567, 2019 04.
Article in English | MEDLINE | ID: mdl-30722102

ABSTRACT

BACKGROUND: Follistatin-like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/endothelial lineage results in postnatal death due to heart failure and profound atrioventricular valve defects. Here, we investigated patients with phenotypes similar to the phenotypes observed in the transgenic mice, for variants in FSTL1. METHODS: In total, 69 genetically unresolved patients were selected with the following phenotypes: campomelic dysplasia (12), small patella syndrome (2), BILU (1), and congenital heart disease patients (54), of which 16 also had kyphoscoliosis, and 38 had valve abnormalities as their main diagnosis. Using qPCR, none of 69 patients showed copy number variations in FSTL1. The entire gene body, including microRNA-198 and three validated microRNA-binding sites, were analyzed using Sanger sequencing. RESULTS: No variants were found in the coding region. However, 8 intronic variants were identified that differed significantly in their minor allele frequency compared to controls. Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis. CONCLUSION: We conclude that pathogenic variants in FSTL1 are unlikely to be responsible for skeletal or atrioventricular valve anomalies in humans.


Subject(s)
Bone Diseases, Developmental/genetics , Campomelic Dysplasia/genetics , DNA Copy Number Variations , Follistatin-Related Proteins/genetics , Heart Valve Diseases/genetics , Hip/abnormalities , Ischium/abnormalities , Kyphosis/genetics , Patella/abnormalities , Polymorphism, Single Nucleotide , Bone Diseases, Developmental/pathology , Campomelic Dysplasia/pathology , Heart Defects, Congenital/genetics , Heart Defects, Congenital/pathology , Heart Valve Diseases/pathology , Hip/pathology , Humans , Ischium/pathology , Kyphosis/pathology , Patella/pathology
10.
Wounds ; 31(3): 75-80, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30720445

ABSTRACT

INTRODUCTION: Ischial pressure ulcers are considered the most difficult type of pressure ulcers (PUs) to treat. OBJECTIVE: The authors report the use of a pedicled anterolateral thigh (pALT) myocutaneous flap as an alternative for covering an ischial PU. MATERIALS AND METHODS: The authors retrospectively collected the data of 21 patients with an indurated recurrent ischial ulcer or a fresh ischial ulcer. A pALT myocutaneous flap was harvested without intramuscular dissection and skeletonization of the perforators for the ischial defect reconstruction. Two modified flap-insetting techniques, an open-route method and a subcutaneous tunnel method, were used for the ischial defect reconstruction. The open-route flap-insetting was used for a recurrent ulcer status after other surgical procedures, and the subcutaneous tunnel method was used for fresh ulcers. RESULTS: The mean follow-up period was 10 months (range, 4-14 months). During the postoperative follow-up, all open-route reconstructions resulted in flap take; however, poor healing with seroma was noted in 2 patients who had undergone pALT reconstruction with subcutaneous tunneling after other previous surgical reconstructions. CONCLUSIONS: In the authors' experience, because of constant blood supply, sufficient bulk, easy elevation, longer pedicle for the arc of rotation, primary closure of the donor site without morbidity, and a non-weightbearing flap donor site, the pALT myocutaneous flap for ischial ulcer reconstruction can serve as a primary treatment and secondary salvage.


Subject(s)
Ischium/pathology , Myocutaneous Flap , Plastic Surgery Procedures/methods , Pressure Ulcer/pathology , Adult , Aged , Female , Humans , Male , Middle Aged , Pressure Ulcer/surgery , Retrospective Studies , Thigh , Treatment Outcome
13.
Int Orthop ; 43(10): 2253-2259, 2019 10.
Article in English | MEDLINE | ID: mdl-30547215

ABSTRACT

PURPOSE: The hypothesis of the present study was that degenerative fibro-ostosis (FO) of the ischial hamstring tendon insertion is a risk factor for heterotopic ossification (HO) following THA. METHODS: We followed 103 consecutive patients (43 males, 60 females, mean age 61 years) who underwent unilateral cementless THA for primary hip osteoarthritis and investigated the incidence of HO within the first 12 months after surgery. On pre-operative radiographs, a standardized evaluation for FO of the ischial hamstring tendon insertion concerning horizontal, vertical, and square dimensions was performed. HO was classified according to Brooker on radiographs at 12 months post-operatively. RESULTS: At follow-up, 56 patients (54%) had no radiographic evidence of HO, 23 (22%) were classified as Brooker I, 17 (17%) as II, 6 (6%) as III, and 1 (1%) as IV, respectively. Patients with post-operative HO had significantly greater vertical (3.0 mm vs. 2.3 mm, p = 0.001) and horizontal (47.9 mm vs. 39.1 mm, p = 0.025) dimensions of FO than patients without HO. Patients with FO and a vertical dimension of ≥ 2.5 mm were more likely to develop HO (55.6%) than patients with a vertical FO dimension of less than 2.5 mm (34.7%, OR = 2.35 p = 0.047). A weak correlation between the vertical and horizontal size of FO and the severity of HO was observed. CONCLUSION: Radiographic evidence of asymptomatic FO is a potential risk factor for the development of HO following THA and may be used as a simple diagnostic tool to pre-operatively identify patients at risk for post-operative HO. This association has not been previously described and further research to confirm the present findings and to justify additional prophylactic treatment in these patients is warranted.


Subject(s)
Arthroplasty, Replacement, Hip/adverse effects , Hamstring Tendons/pathology , Ischium/pathology , Ossification, Heterotopic/etiology , Osteoarthritis, Hip/surgery , Adolescent , Adult , Aged , Female , Fibrosis , Hamstring Tendons/diagnostic imaging , Humans , Ischium/diagnostic imaging , Male , Middle Aged , Ossification, Heterotopic/diagnostic imaging , Osteoarthritis, Hip/diagnostic imaging , Osteoarthritis, Hip/pathology , Retrospective Studies , Risk Factors , Young Adult
14.
J Tissue Viability ; 27(3): 173-180, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29886122

ABSTRACT

BACKGROUND: Characterization of ischial tissue health using a standardized diagnostic ultrasound protocol capturing thickness and gray scale analysis has not been established. OBJECTIVES: This study evaluates inter-participant and inter-trial reliability of thickness and gray scale analysis of ultrasound images of tissues overlying the ischial tuberosity. It provides recommendations for the number of images required to minimize the standard error of measurement (SEM) and determines the number of images required for thickness, gray scale and contrast values that exceed an a-priori minimal detectable change (MDC) for repeated tissue assessment. METHODS: Brightness mode ultrasound images using a 12 MHz linear probe were collected on the dominant limb in the side lying position for ten healthy participants and partitioned into three regions of interest: skin, subcutaneous tissue and muscle. Thickness and gray scale measures of skin, muscle and subcutaneous tissue were calculated using a customized MATLAB program. Contrast of each region of interest was calculated using the Gray Scale Level Co-Occurrence Matrix. Generalizability theory was used to quantify indices of dependability and corresponding SEMs and MDCs with 90% Confidence Intervals. RESULTS: Participants accounted for most of the total variance (75.56% to 94.78%). Coefficient of dependability (ϕ) for thickness, grey scale and contrast measures was greater than 0.80 when more than two images were averaged. In order to detect a MDC of 21% in thickness and echogenicity measures, at least three images are required, while at least 5 images are required for a MDC of 25% for contrast measures. CONCLUSIONS: Obtaining reliable thickness, echogenicity and contrast measures of tissue overlying the ischial tuberosity can be achieved from two ultrasound images by a single therapist on an individual participant however three and five images are required to use a MDC of 21% for thickness measures and MDC of 25% for contrast measures respectively.


Subject(s)
Health Status , Ischium/pathology , Ultrasonography/methods , Humans , Image Interpretation, Computer-Assisted/methods , Ischium/abnormalities , Ontario
16.
Zhonghua Shao Shang Za Zhi ; 33(9): 545-549, 2017 Sep 20.
Article in Chinese | MEDLINE | ID: mdl-28926875

ABSTRACT

Objective: To explore effects of perforator flaps combined with muscle flaps for repairing grade Ⅳ pressure ulcers in ischial tuberosity of elderly patients. Methods: Nine elderly patients with grade Ⅳ pressure ulcers in ischial tuberosity were hospitalized in our burn ward from April 2014 to April 2017. Size of wounds ranged from 5 cm×3 cm to 12 cm×7 cm, and depth of sinus ranged from 6 to 22 cm. After admission, emergency debridement or debridement in selective time was performed. After debridement, the wounds were treated with continuous vacuum assisted closure therapy. After the treatment for 1 to 2 weeks, tissue flaps repair operations were performed. Four patients were repaired with inferior gluteal artery perforator flaps combined with long head of biceps femoris muscle flaps. Three patients were repaired with inferior gluteal artery perforator flaps combined with semimembranous muscle flaps. One patient was repaired with inferior gluteal artery perforator flap combined with gracilis muscle flap. One patient was repaired with femoral profound artery perforator flap combined with gluteus maximus muscle flap, and the distal area of femoral profound artery perforator flap of the patient which showed intraoperative cyanosis of 6 cm×4 cm was thinned to medium thickness skin to cover the muscle flap. The other eight patients showed no abnormality during operation. Size of perforator flaps ranged from 7 cm×5 cm to 14 cm×12 cm, and size of muscle flaps ranged from 11 cm×4 cm to 24 cm×6 cm. The donor sites of flaps were all sutured directly. Results: The tissue flaps and skin graft of all patients survived well after operation. During follow-up of 8 to 35 weeks, operative area of all patients showed good shape and texture, with no local diabrosis or recurrence of pressure ulcers. Conclusions: The combination of perforator flaps and muscle flaps is effective in repairing and reducing recurrence of grade Ⅳ pressure ulcers in ischial tuberosity of elderly patients.


Subject(s)
Ischium/pathology , Perforator Flap , Pressure Ulcer/surgery , Skin Transplantation , Surgical Flaps/blood supply , Aged , Debridement , Female , Femoral Artery , Humans , Pressure Ulcer/etiology
17.
Am J Med Genet A ; 173(10): 2808-2813, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28815954

ABSTRACT

Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development. Both disorders recently have been found to result from mutations in the BMPER gene. We report a patient with one deletion and one mutation of the BMPER gene who has features most consistent with DSD but who has survived to age 9 years. Survival suggests that DSD and ISD reflect a spectrum of severity of one disease process.


Subject(s)
Carrier Proteins/genetics , Craniofacial Abnormalities/genetics , Dysostoses/genetics , Ischium/pathology , Mutation , Ribs/abnormalities , Spine/abnormalities , Child , Craniofacial Abnormalities/pathology , Dysostoses/pathology , Humans , Male , Prognosis , Ribs/pathology , Spine/pathology
18.
Pediatr. catalan ; 77(2): 60-62, abr.-jun. 2017. ilus
Article in Catalan | IBECS | ID: ibc-164995

ABSTRACT

Introducció: l' osteomielitis de pelvis és una patologia poc freqüent que representa el 10% de les osteomielitis. La baixa incidència i la simptomatologia inespecífica pot portar a un retard en el diagnòstic i en la instauració d'un tractament adequat. Cas clínic: pacient de 6 anys amb febre i quadre respiratori de 3 dies d'evolució, associat a dolor i impotència funcional de maluc esquerre, motiu pel qual es fa analítica (normal), radiografia de tòrax (discret infiltrat hilar dret) i ecografia que mostra mínim líquid a l'articulació coxofemoral. S'orienta com a sinovitis transitòria de maluc. Per persistència de la clínica, el novè dia es repeteix l'analítica (hemograma normal, proteïna C reactiva 5,7mg/dl) i hemocultiu que resulta positiu per a Staphylococcus aureus. Es fa ressonància magnètica que és compatible amb osteomie-litis d'isqui. Rep tractament amb cloxacil•lina endovenosa i posteriorment amb amoxicil•linaclavulànic oral fins a completar 6 setmanes, amb una evolució favorable. Comentaris: el diagnòstic diferencial de la coixesa en l'infant inclou bàsicament l'artritis sèptica, l'osteomielitis i la sino-vitis transitòria. El context de quadre respiratori i l'analítica normal, tot i afavorir el diagnòstic de sinovitis, no exclou la possibilitat dels altres quadres que per la seva gravetat i possibles conseqüències cal tenir presents


Introducción. La osteomielitis de pelvis es una patología poco frecuente, que representa menos del 10% de las osteomielitis. La baja incidencia y la sintomatología inespecífica suelen conducir a un retraso en el diagnóstico y en la instauración de un tratamiento adecuado. Caso clínico. Paciente de 6 años con fiebre y cuadro respiratorio de 3 días de evolución, asociado a dolor e impotencia funcional de cadera izquierda, por lo que se realiza analítica (normal), radiografía de tórax (discreto refuerzo hiliar derecho) y ecografía de cadera que muestra mínimo derrame en articulación coxo-femoral izquierda. Se orienta como sinovitis transtoria de cadera. Por persistencia de la clínica, el noveno dia se repite analítica (hemograma normal, proteína C reactiva 5,7mg/dl) y hemocultivo, que resulta positivo para Staphylococcus aureus. Se realiza resonancia magnética nuclear, que resulta compatible con osteomielitis de isquion. Se inicia tratamiento con cloxacilina endovenosa y posteriormente con amoxicilina-clavulánico oral hasta completar 6 semanas, con buena evolución clínica. Comentarios. El diagnóstico diferencial de la cojera en el niño incluye básicamente la artritis séptica, la osteomielitis y la sinovitis transitoria de cadera. El contexto de cuadro respiratorio y analítica normal, pese a que favorece el diagnóstico de sinovitis, no excluye la posibilidad de los demás cuadros que, por su gravedad y posibles consecuencias, debemos tener en mente (AU)


Introduction. Pelvic osteomyelitis is a rare disease, representing only 10% of all cases of osteomyelitis in children. The low incidence and non-specific symptoms that some patients may present can lead to a delayed diagnosis and treatment. Case report. A 6-year-old child presented to the emergency department with a 3-day history of fever and respiratory symptoms associated with the development of left hip pain and limping. White blood cell count and C-reactive protein were within normal range; a chest X-ray showed mild right hilar enlargement, and a left hip ultrasound disclosed a small effusion in the hip joint. The patient was discharged with the diagnosis of transient synovitis. The symptoms persisted and on day 9 the C-reactive protein was noted to be 5.7 mg/dL, with a normal white blood cell count. A blood culture was positive for Staphylococcus aureus, and a magnetic resonance imaging suggested osteomyelitis of the ischium. The patient was then started on intravenous cloxacillin, with good clinical response. He completed a 6-week course of oral amoxicillin- clavulanate. Comments. The differential diagnosis of a limping child includes septic arthritis, osteomyelitis, and transient synovitis. A normal blood test or concomitant respiratory symptoms shouldn’t exclude the diagnosis of osteomyelitis or septic arthritis (AU)


Subject(s)
Humans , Male , Child , Osteomyelitis/drug therapy , Osteomyelitis , Synovitis , Cloxacillin/therapeutic use , Amoxicillin-Potassium Clavulanate Combination/administration & dosage , Arthritis, Infectious/complications , Arthritis, Infectious/drug therapy , Fever/complications , Fever/etiology , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Diagnosis, Differential , Ischium , Ischium/pathology , Ischium , Staphylococcus aureus , Staphylococcus aureus/isolation & purification
19.
J Plast Reconstr Aesthet Surg ; 70(7): 959-966, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28285012

ABSTRACT

BACKGROUND: Despite newly introduced techniques, reconstruction of ischial pressure ulcers remains a difficult problem with high-reported failure rates. METHODS: A retrospective chart review was performed on all spinal cord injury patients who underwent ischial pressure ulcer reconstruction by the senior author (V.L.) between 2004 and 2012. The two-stage procedure consisted of debridement and bone biopsy, followed by bursectomy, partial ischiectomy, fascial release, and gluteus maximus and hamstring advancement flaps. Postoperative care included 2-week supine bed rest on an air-fluidized bed, sitting tolerance rehabilitation, and thorough behavioral training. RESULTS: Sixty-five patients (74 flaps) were identified. A 45.9% had a previous attempt at reconstruction. The median follow-up period was 622 days. Overall, 67.6% of flaps were intact at the last follow-up. Superficial and deep dehiscence rates were 16.2 and 28.4%, respectively. Seven out of 35 flaps suffered late recurrence after being well healed for more than 1 year. History of previous reconstruction was found to be associated with increased odds of superficial (OR 6.02, 95% CI 1.55-23.3) and deep dehiscence (OR 12.3, 95% CI 1.99-76.9). CONCLUSIONS: The evolution of the senior author's decades of practice has led to the development of a simpler repair, which relies on plane-by-plane release of scarred tissues to improve the mobility of muscle and skin flaps without large tissue movements, even in the setting of apparent extensive tissue loss. This technique is a reliable option, particularly for the primary ischial pressure ulcer.


Subject(s)
Dissection/methods , Ischium/pathology , Plastic Surgery Procedures/methods , Pressure Ulcer/surgery , Adult , Biopsy , Bursa, Synovial/surgery , Buttocks , Debridement , Fasciotomy , Female , Follow-Up Studies , Hamstring Muscles/surgery , Humans , Ischium/surgery , Male , Middle Aged , Myocutaneous Flap , Osteomyelitis/diagnosis , Osteomyelitis/drug therapy , Pressure Ulcer/etiology , Recurrence , Retrospective Studies , Spinal Cord Injuries/complications , Surgical Wound Dehiscence/etiology , Treatment Outcome
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